(Q38167824)

30 August 2017

title

Inborn errors of metabolism and expanded newborn screening: review and update (English)

1 reference

30 August 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Chloe Miu Mak

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Albert Yan-Wo Chan

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ching-Wan Lam

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

publication date

1 November 2013

1 reference

Critical Reviews in Clinical Laboratory Sciences

30 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

142-162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article]

9 June 2020

cites work

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Genetic Control of Biochemical Reactions in Neurospora

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

George Beadle: from genes to proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Investigations on glycogen disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Inherited metabolic rare disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Clinical approach to inherited metabolic disorders in neonates: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

A MYOPATHY PRESENTING IN ADULT LIFE WITH FEATURES SUGGESTIVE OF GLYCOGEN STORAGE DISEASE.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Acid maltase deficiency in adults. Diagnosis and management in five cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Visual hallucinations in a patient with adult onset acid maltase deficiency disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Endocrine manifestations related to inherited metabolic diseases in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Peripheral neuropathy and inborn errors of metabolism in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The diagnosis of childhood neurodegenerative disorders presenting as dementia in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Young-onset dementia: demographic and etiologic characteristics of 235 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Therapy insight: inborn errors of metabolism in adult neurology--a clinical approach focused on treatable diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Leukoencephalopathies associated with inborn errors of metabolism in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Congenital adrenal hyperplasia in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Lysosomal storage diseases in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Rare inborn errors of metabolism in adults: the lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Glycogen storage disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Leigh and Leigh-like syndrome in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Inherited disorders of neurotransmitters in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Succinic semialdehyde dehydrogenase deficiency in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Familial hypercholesterolemia from children to adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Genetic liver disease in adults. Early recognition of the three most common causes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The incidence of inherited metabolic disorders in the West Midlands, UK.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Inborn errors of metabolism in Singapore

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening in India

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Integration of new genetic diseases into statewide newborn screening: New England experience

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Impact of specific medical interventions on reducing the prevalence of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The epidemiology of mental retardation: challenges and opportunities in the new millennium

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Preliminary report on a mass screening program for neonatal hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening in North America.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Urine screening for aminoacidopathies: Is it beneficial?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Reduced morbidity in patients with cystic fibrosis detected by neonatal screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Selected ion fragmentation with a tandem quadrupole mass spectrometer

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Application of electrospray tandem mass spectrometry to neonatal screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Economic evaluation of tandem mass spectrometry screening in California.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening in Canada - Are we out of step?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening: toward a uniform screening panel and system

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening in the Asia Pacific region

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

China: public health genomics.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening for neuropathic lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Long-term stability of amino acids and acylcarnitines in dried blood spots.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Acylcarnitine profiles of preterm infants over the first four weeks of life

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Postnatal variations in blood free and acylcarnitines.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Enhanced interpretation of newborn screening results without analyte cutoff values.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Congenital hypothyroidism control programs. A cost-benefit analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Neonatal screening for congenital hypothyroidism: results and perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Projected costs, risks, and benefits of expanded newborn screening for MCADD.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Tandem mass spectrometry and newborn screening: pilot data and review

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Cost-benefit analysis of universal tandem mass spectrometry for newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Neonatal screening for glutaric aciduria type I: strategies to proceed

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening--United States, 2003-2007.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn dried bloodspot screening: long-term follow-up activities and information system requirements.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening for lysosomal storage diseases: an ethical and policy analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Understanding sickle cell carrier status identified through newborn screening: a qualitative study.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Frequency of high-quality communication behaviors used by primary care providers of heterozygous infants after newborn screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening 50 years later: access issues faced by adults with PKU.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Expanded newborn screening: implications for genomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening strategies for congenital hypothyroidism: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Hyperbilirubinemia in healthy neonates with glucose-6-phosphate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Psychological effects of false-positive results in expanded newborn screening in China

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The current revolution in newborn screening: new technology, old controversies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Parental tolerance of false-positive newborn screening results.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Internet use by parents of infants with positive newborn screens

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry: a second-tier method with improved specificity and sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Iatrogenesis: the PKU anxiety syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Information and informed consent for neonatal screening: opinions and preferences of parents

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening and the obstetrician.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Consent for newborn screening: the attitudes of health care providers.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Implications of newborn screening for nurses

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Parental information use in the context of newborn bloodspot screening. An exploratory mixed methods study.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Agency discretion and public health service delivery

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Seroprevalence of human immunodeficiency virus among childbearing women. Estimation by testing samples of blood from newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

An evaluation of the use of dried blood spots from newborn screening for monitoring the prevalence of cocaine use among childbearing women.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Pilot study for utilization of dried blood spots for screening of lead, mercury and cadmium in newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Neonatal levels of cytokines and risk of autism spectrum disorders: an exploratory register-based historic birth cohort study utilizing the Danish Newborn Screening Biobank

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Public attitudes regarding the use of residual newborn screening specimens for research

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The use of newborn screening dried blood spots for research: the parental perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Storage policies and use of the Danish Newborn Screening Biobank.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Analysis of educational materials and destruction/opt-out initiatives for storage and use of residual newborn screening samples

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Retention and research use of residual newborn screening bloodspots

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Expanded newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry (CE-ESI-MS).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Direct and quantitative analysis of underivatized acylcarnitines in serum and whole blood using paper spray mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn screening of phenylketonuria using direct analysis in real time (DART) mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Dried blood spot analysis by digital microfluidics coupled to nanoelectrospray ionization mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Development of a routine newborn screening protocol for severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The ethical hazards and programmatic challenges of genomic newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Applying Genomic Analysis to Newborn Screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Ethical issues with newborn screening in the genomics era

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Distribution of etiologies in patients above and below age 45 with first-ever ischemic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Adult Leigh disease without failure to thrive.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Mutational analysis for Wilson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Adult-onset adrenoleukodystrophy heralded by auditory hallucinations and delusions.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Newborn blood collections. Science gold mine, ethical minefield

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Parental attitudes on expanded newborn screening in Hong Kong

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

Committee Opinion No. 481: Newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408363.2013.847896

10.3109/10408363.2013.847896

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24295058%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference