Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies

Brain and Development

Volumn 37, Issue 10, 2015, Pages 952-959

  Li, Xiyuan ^a   Ding, Yuan ^a   Liu, Yupeng ^a   Ma, Yanyan ^a   Song, Jinqing ^a   Wang, Qiao ^a   Yang, Yanling ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

5 Oxoprolinase deficiency; 5 Oxoprolinuria; Glutathione synthetase deficiency; GSS gene; OPLAH gene; Pyroglutamic aciduria

Indexed keywords

5 OXOPROLINASE; ALPHA TOCOPHEROL; ANGIOTENSIN II; ASCORBIC ACID; BICARBONATE; CARNITINE; CHYMOSIN; COBALAMIN; GLUTATHIONE SYNTHASE; PYROGLUTAMIC ACID; RIBOFLAVIN; THIAMINE; UBIDECARENONE; HYDROXYPROLINE;

5-OXOPROLINURIA; ARTICLE; CARNITINE DEFICIENCY; CHILD; CHINESE; CLINICAL ARTICLE; FEEDING DIFFICULTY; FEMALE; GENE MUTATION; GROWTH RETARDATION; HEMOLYTIC ANEMIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERSOMNIA; JAUNDICE; LACTIC ACIDEMIA; MALE; MENTAL DEFICIENCY; METABOLIC ACIDOSIS; MISSENSE MUTATION; MOTOR RETARDATION; MUSCLE HYPOTONIA; PNEUMONIA; RECURRENT INFECTION; SEIZURE; VOMITING; AMINO ACID METABOLISM, INBORN ERRORS; ASIAN CONTINENTAL ANCESTRY GROUP; CASE CONTROL STUDY; CASE REPORT; CHINA; DEFICIENCY; GENETIC PREDISPOSITION; GENETICS; INFANT; METABOLISM; MUTATION; NEWBORN; PRESCHOOL CHILD; URINE;

AMINO ACID METABOLISM, INBORN ERRORS; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLUTATHIONE SYNTHASE; HUMANS; HYDROXYPROLINE; INFANT; INFANT, NEWBORN; MALE; MUTATION; PYROGLUTAMATE HYDROLASE;

EID: 84941992690     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2015.03.005     Document Type: Article

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