Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations

Brain and Development

Volumn 37, Issue 1, 2015, Pages 107-113

  Polinati, Padmini P ^a   Valanne, Leena ^b   Tyni, Tiina ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

Author keywords

Low fat diet therapy; Malonyl CoA decarboxylase; Mental retardation; Mitochondrial disorder; Rheumatoid arthritis

Indexed keywords

ANTINUCLEAR ANTIBODY; HLA B27 ANTIGEN; MALONIC ACID; MALONYL COENZYME A DECARBOXYLASE; MALONYLCARNITINE; MESSENGER RNA; METHYLMALONIC ACID; UNCLASSIFIED DRUG; CARBOXYLYASE; MALONYL COENZYME A; MALONYL-COA DECARBOXYLASE;

ADOLESCENT; AMINO TERMINAL SEQUENCE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL NUCLEUS; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; DIET THERAPY; DOWN REGULATION; ELECTROENCEPHALOGRAM; FEMALE; FIBROBLAST; FOLLOW UP; GENE EXPRESSION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPOGLYCEMIA; IMMUNOCYTOCHEMISTRY; LIPID DIET; LOW FAT DIET; MALONYL COENZYME A DECARBOXYLASE DEFICIENCY; MENTAL DEFICIENCY; MITOCHONDRIAL TARGETING SIGNAL; MITOCHONDRION; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RARE DISEASE; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHEUMATOID ARTHRITIS; TANDEM MASS SPECTROMETRY; WESTERN BLOTTING; WHITE MATTER; CHILD; DEFICIENCY; GENETICS; IMMUNOHISTOCHEMISTRY; INBORN ERROR OF METABOLISM; INFANT; MOLECULAR GENETICS; MUTATION; ONSET AGE; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

ADOLESCENT; AGE OF ONSET; BASE SEQUENCE; BLOTTING, WESTERN; CARBOXY-LYASES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALONYL COENZYME A; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION;

EID: 84919423732     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.02.001     Document Type: Article

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