Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Molecular Genetics and Metabolism

Volumn 119, Issue 1-2, 2016, Pages 44-49

  Sass, Jörn Oliver ^a,b,c   Gemperle Britschgi, Corinne ^b   Tarailo Graovac, Maja ^d,e   Patel, Nisha ^f   Walter, Melanie ^c   Jordanova, Albena ^g,h   Alfadhel, Majid ⁱ   Barić, Ivo ^j   Çoker, Mahmut ^k   Damli Huber, Aynur ^l   Faqeih, Eissa Ali ^m   García Segarra, Nuria ⁿ   Geraghty, Michael T ^o   Jåtun, Bjørn Magne ^p   Kalkan Uçar, Sema ^k   Kriewitz, Merten ^q   Rauchenzauner, Markus ^r   Bilić, Karmen ^j   Tournev, Ivailo ^h,s   Till, Claudia ^a   Sayson, Bryan ^d   Beumer, Daniel ^d   Ye, Cynthia Xin ^c   Zhang, Lin Hua ^d,e,t   Vallance, Hilary ^d,t   Alkuraya, Fowzan S ^f   van Karnebeek, Clara D M ^d,e,t   more..

^a BONN RHEIN SIEG UNIVERSITY OF APPLIED SCIENCES   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e Centre for Molecular Medicine and Therapeutics   (Canada)

^f KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^g UNIVERSITY OF ANTWERP   (Belgium)

^h MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

ⁱ KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^j KBC Zagreb   (Croatia)

^k EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^l Kinderzentrum Munchen   (Germany)

^m KING FAHAD MEDICAL CITY   (Saudi Arabia)

ⁿ LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^o CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^p lesund sjukehus   (Norway)

^q St Elisabeth Krankenhaus   (Germany)

^r Hospital Ostallgäu Kaufbeuren   (Germany)

^s NEW BULGARIAN UNIVERSITY   (Bulgaria)

^t UNIVERSITY OF BRITISH COLUMBIA   (Canada)

more..

Author keywords

5 Oxoprolinase; 5 oxoprolinuria; Glutathione synthetase; Pyroglutamic aciduria; glutamyl cycle

Indexed keywords

5 OXOPROLINASE; GLUTATHIONE; GLUTATHIONE SYNTHASE; PYROGLUTAMIC ACID;

5 OXOPROLINASE DEFICIENCY; 5-OXOPROLINURIA; ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BI ALLELIC MUTATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DOMINANT INHERITANCE; ENZYME DEFICIENCY; EXTRACHROMOSOMAL INHERITANCE; FAMILY HISTORY; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; MACROCEPHALY; MALE; MISSENSE MUTATION; NEWBORN SCREENING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCE; SCHOOL CHILD; STOP MUTATION; ALLELE; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; METABOLISM; MUTATION; PATHOPHYSIOLOGY;

ADOLESCENT; ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; FEMALE; GLUTATHIONE; GLUTATHIONE SYNTHASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; PYROGLUTAMATE HYDROLASE; PYRROLIDONECARBOXYLIC ACID;

EID: 84979740974     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.07.008     Document Type: Article

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