Mitochondrial fatty acid oxidation disorders: Clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

Journal of Inherited Metabolic Disease

Volumn 33, Issue 5, 2010, Pages 527-532

  Spiekerkoetter, Ute ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; RIBOFLAVIN;

ACYL COENZYME A DEHYDROGENASE 9 DEFICIENCY; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; EXERCISE; FATTY ACID OXIDATION DISORDER; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HELLP SYNDROME; HEPATIC ENCEPHALOPATHY; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; HYPOKETOTIC HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE WEAKNESS; MYALGIA; NEWBORN DEATH; NEWBORN SCREENING; ONSET AGE; PERIPHERAL NEUROPATHY; PHENOTYPIC VARIATION; PREVALENCE; RETINOPATHY; REVIEW; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ENERGY METABOLISM; FATTY ACIDS; GENOTYPE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NEONATAL SCREENING; OXIDATION-REDUCTION; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 77957560919     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9090-x     Document Type: Review

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