Novel compound heterozygous LIAS mutations cause glycine encephalopathy

Journal of Human Genetics

Volumn 60, Issue 10, 2015, Pages 631-635

  Tsurusaki, Yoshinori ^a   Tanaka, Ryuta ^b   Shimada, Shino ^c   Shimojima, Keiko ^c   Shiina, Masaaki ^a   Nakashima, Mitsuko ^a   Saitsu, Hirotomo ^a   Miyake, Noriko ^a   Ogata, Kazuhiro ^a   Yamamoto, Toshiyuki ^c   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b UNIVERSITY OF TSUKUBA   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLYCINE CLEAVAGE SYSTEM; LIGASE; LIPOIC ACID SYNTHETASE; UNCLASSIFIED DRUG; GLYCINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CAUDATE NUCLEUS; CHOREA; CLINICAL FEATURE; DNA DETERMINATION; ENTERIC FEEDING; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; GLYCINE ENCEPHALOPATHY; HETEROZYGOTE; HUMAN; HYPERGLYCINEMIA; IMMOBILITY; MISSENSE MUTATION; NEUROIMAGING; NONSENSE MEDIATED MRNA DECAY; NUCLEAR MAGNETIC RESONANCE IMAGING; PUTAMEN; UPPER RESPIRATORY TRACT INFECTION; YOUNG ADULT; BLOOD; CEREBROSPINAL FLUID; EXOME; GENETICS; MUTATION;

ADULT; EXOME; FEMALE; GLYCINE; HETEROZYGOTE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; MUTATION;

EID: 84945272423     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.72     Document Type: Article

References (13)

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