(Q33688367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407781%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

review article

1 reference

title

Recognition and management of fatty acid oxidation defects: a series of 107 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407781%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

0 references

7

1 reference

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10 December 2019

Jean-Paul Bonnefont

11

1 reference

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10 December 2019

author name string

J M Saudubray

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407781%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

D Martin

2

1 reference

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10 December 2019

P de Lonlay

3

1 reference

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10 December 2019

G Touati

4

1 reference

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10 December 2019

F Poggi-Travert

5

1 reference

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10 December 2019

D Bonnet

6

1 reference

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10 December 2019

M Boutron

8

1 reference

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10 December 2019

A Slama

9

1 reference

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10 December 2019

C Vianey-Saban

10

1 reference

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10 December 2019

D Rabier

12

1 reference

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10 December 2019

P Kamoun

13

1 reference

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10 December 2019

M Brivet

14

1 reference

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10 December 2019

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407781%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

10 December 2019

published in

1 reference

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10 December 2019

volume

22

1 reference

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10 December 2019

page(s)

488-502

1 reference

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10 December 2019

issue

4

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1005556207210

10 December 2019

exact match

0 references

cites work

Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

Defects in activation and transport of fatty acids

1 reference

12 December 2020

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

1 reference

12 December 2020

Multiple acyl-coenzyme A dehydrogenation disorders (MAD) responsive to riboflavin: biochemical studies in fibroblasts

1 reference

12 December 2020

The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders

1 reference

12 December 2020

Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation

1 reference

12 December 2020

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency

1 reference

12 December 2020

Fatty acid oxidation disorders: A new class of metabolic diseases

1 reference

12 December 2020

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1 reference

12 December 2020

Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

1 reference

12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

12 December 2020

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

1 reference

12 December 2020

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005556207210

7 January 2021

inferred from DOI database lookup

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview

1 reference

12 December 2020

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

1 reference

12 December 2020

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

1 reference

12 December 2020

The L-3-hydroxyacyl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death

1 reference

12 December 2020

Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey

1 reference

12 December 2020

Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy

1 reference

12 December 2020

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?

1 reference

12 December 2020

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

1 reference

12 December 2020

A simple screening test for medium-chain acyl CoA dehydrogenase deficiency

1 reference

12 December 2020

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

1 reference

12 December 2020

The inborn errors of mitochondrial fatty acid oxidation

1 reference

12 December 2020

Glutaric acidemia type II. Comparison of pathologic features in two infants

1 reference

12 December 2020

Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency

1 reference

12 December 2020

Riboflavin-responsive ethylmalonic-adipic aciduria

1 reference

12 December 2020

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

1 reference

12 December 2020

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

12 December 2020

The honeybee syndrome - implications of the teratogenicity of mannose in rat-embryo culture

1 reference

12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

1 reference

12 December 2020

Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

1 reference

12 December 2020

Riboflavin-responsive lipid myopathy and carnitine deficiency.

1 reference

12 December 2020

Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile

1 reference

12 December 2020

Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes

1 reference

12 December 2020

Evidence for intermediate channeling in mitochondrial beta-oxidation

1 reference

12 December 2020

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency

1 reference

12 December 2020

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

1 reference

12 December 2020

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

1 reference

12 December 2020

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

1 reference

12 December 2020

Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.

1 reference

12 December 2020

Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

1 reference

12 December 2020

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

1 reference

12 December 2020

Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation

1 reference

12 December 2020

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

1 reference

12 December 2020

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

1 reference

12 December 2020

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

12 December 2020

Identifiers

DOI

10.1023/A:1005556207210

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407781%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 December 2019

0 references

1 reference