(Q24616340)

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Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management

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Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management (English)

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maternal health

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author name string

Prem S Shekhawat

1

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Dietrich Matern

2

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Arnold W Strauss

3

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language of work or name

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publication date

May 2005

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Pediatric Research

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57

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5 Pt 2

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78R-86R

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cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

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7 April 2017

Isovaleric acidemia: a new genetic defect of leucine metabolism

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7 April 2017

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

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7 April 2017

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations

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7 April 2017

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

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7 April 2017

Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death

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7 April 2017

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

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7 April 2017

Fatty acid import into mitochondria

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7 April 2017

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

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7 April 2017

Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele

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7 April 2017

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

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7 April 2017

Effects of peroxisome proliferator-activated receptor delta on placentation, adiposity, and colorectal cancer

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7 April 2017

Cyclo-oxygenase-2-derived prostacyclin mediates embryo implantation in the mouse via PPARdelta

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7 April 2017

Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation

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7 April 2017

PPAR gamma is required for placental, cardiac, and adipose tissue development

1 reference

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7 April 2017

Cloning and characterization of a human cDNA ACAD10 mapped to chromosome 12q24.1.

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27 September 2017

Imitators of severe pre-eclampsia/eclampsia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Diagnosis and management of hemolysis, elevated liver enzymes, and low platelets syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Mitochondrial beta-oxidation

1 reference

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27 September 2017

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Fatty acid synthesis is essential in embryonic development: fatty acid synthase null mutants and most of the heterozygotes die in utero

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Pregnancy and inherited metabolic disorders: maternal and fetal complications

1 reference

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27 September 2017

Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Severe hepatic dysfunction in pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Fatty acid oxidation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Fatty acid transport: the roads taken

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Mass spectrometry in the clinical laboratory

1 reference

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27 September 2017

Genetic screening of newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Mass spectrometry methods for metabolic and health assessment

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Cellular uptake of long-chain fatty acids: role of membrane-associated fatty-acid-binding/transport proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Inborn errors of mitochondrial fatty acid oxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Membrane proteins implicated in long-chain fatty acid uptake by mammalian cells: CD36, FATP and FABPm

1 reference

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27 September 2017

The spectrum of severe preeclampsia: comparative analysis by HELLP (hemolysis, elevated liver enzyme levels, and low platelet count) syndrome classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Acute fatty liver of pregnancy: etiology of fetal distress and fetal wastage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Lipoprotein metabolism in pregnancy, fat transport to the fetus, and the effects of diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

27 September 2017

Reversible peripartum liver failure: a new perspective on the diagnosis, treatment, and cause of acute fatty liver of pregnancy, based on 28 consecutive cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

30 May 2018

Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

30 May 2018

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Neonatal outcome in severe preeclampsia at 24 to 36 weeks' gestation: does the HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome matter?

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Increased plasma carnitine concentrations in preeclampsia

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159631.63843.3E

21 January 2018

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

28 November 2018

Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582391

28 November 2018

The metabolic autopsy comes of age

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mass spectrometry-based diagnostics: the upcoming revolution in disease detection has already arrived

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The HELLP syndrome associated wiht fetal medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15817498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1203/01.PDR.0000159631.63843.3E

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