(Q34229883)

31 July 2017

1 reference

title

Detection of inborn errors of metabolism in the newborn (English)

1 reference

31 July 2017

Chakrapani A

1

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31 July 2017

Cleary MA

series ordinal

2

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31 July 2017

Wraith JE

series ordinal

3

1 reference

31 July 2017

publication date

1 May 2001

1 reference

Archives of Disease in Childhood. Fetal and Neonatal Edition

31 July 2017

published in

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31 July 2017

volume

84

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31 July 2017

issue

3

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31 July 2017

page(s)

F205-10

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Inborn errors of metabolism and pregnancy

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Hydrops fetalis: lysosomal storage disorders in extremis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Disorders of cholesterol biosynthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

A Nationwide Survey on Transient Hyperammonemia in Newborn Infants in Japan: Prognosis of Life and Neurological Outcome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Cerebrospinal fluid investigations for neurometabolic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Absence of acidosis in the initial presentation of propionic acidaemia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721249

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060

28 October 2018

1 reference

12 December 2020

Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism

1 reference

12 December 2020

Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

1 reference

12 December 2020

Plasma ammonia concentration during the first six postnatal months, as measured with an ammonium-selective electrode

1 reference

12 December 2020

The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)

1 reference

12 December 2020

Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration

1 reference

12 December 2020

Dialysis in neonates with inborn errors of metabolism

1 reference

12 December 2020

Identifiers

DOI

10.1136/FN.84.3.F205

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31 July 2017

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31 July 2017

1 reference