Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 205-207

  Sperk, Astrid ^a   Mueller, Martina ^a   Spiekerkoetter, Ute ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

Fatty acid oxidation; LCHAD; MTP; NBS; TFP

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; MITOCHONDRIAL PROTEIN; TRIFUNCTIONAL PROTEIN COMPLEX; UNCLASSIFIED DRUG;

3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FATTY ACID OXIDATION; FEMALE; GENOTYPE; HUMAN; INFANT; INFECTION; MALE; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; TRIFUNCTIONAL PROTEIN DEFICIENCY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MULTIENZYME COMPLEXES; NEONATAL SCREENING; TREATMENT OUTCOME;

EID: 77957225821     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.07.003     Document Type: Article

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