The clinical manifestation of MCAD deficiency: Challenges towards adulthood in the screened population

Journal of Inherited Metabolic Disease

Volumn 33, Issue 5, 2010, Pages 513-520

  Schatz, Ulrich A ^a   Ensenauer, Regina ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ALCOHOL CONSUMPTION; BEHAVIOR DISORDER; BRAIN DISEASE; CATABOLISM; DEVELOPMENTAL DISORDER; DIET RESTRICTION; FATTY ACID OXIDATION; FATTY LIVER; GENE MUTATION; HEART FAILURE; HETEROZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; LEARNING DISORDER; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC ACIDOSIS; MORTALITY; NEWBORN SCREENING; NUTRITIONAL COUNSELING; PATIENT EDUCATION; PHENOTYPIC VARIATION; PROGNOSIS; REVIEW; RHABDOMYOLYSIS; SCREENING;

ACYL-COA DEHYDROGENASE; ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FATTY ACIDS; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NEONATAL SCREENING; OXIDATION-REDUCTION; PHENOTYPE; PROGNOSIS; YOUNG ADULT;

EID: 77957593706     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9115-5     Document Type: Review

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