Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

Molecular Genetics and Metabolism

Volumn 103, Issue 4, 2011, Pages 349-357

  Wang, Guo li ^a   Wang, Jing ^a   Douglas, Ganka ^a   Browning, Marsha ^b   Hahn, Sihoun ^c   Ganesh, Jaya ^d   Cox, Sarah ^e   Aleck, Kirk ^e   Schmitt, Eric S ^a   Zhang, Wei ^a   Wong, Lee Jun C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e Oncology Associates   (United States)

Author keywords

Array CGH; CACT deficiency; Large deletion; SLC25A20 gene mutation

Indexed keywords

AMINO ACID; CARNITINE; CARNITYLACYLCARNITINE TRANSLOCASE; CREATINE KINASE; DNA; SLC25A20 PROTEIN; UNCLASSIFIED DRUG;

ACIDOSIS; ADULT; AMINO ACID DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; BRAIN DISEASE; CARDIOMYOPATHY; CARNITINE ACYL CARNITINE TRANSLOCASE DEFICIENCY; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEMENTIA; DNA EXTRACTION; FEMALE; FETUS; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART ARRHYTHMIA; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; HYPOKALEMIA; INFANT; LETHARGY; LIVER FAILURE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; CARNITINE; CARNITINE ACYLTRANSFERASES; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FEMALE; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 79960892330     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.05.001     Document Type: Article

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