5-Oxoprolinase deficiency: report of the first human OPLAH mutation

Journal article

Peer reviewed

I A Almaghlouth, J Y Mohamed, M Al-Amoudi, L Al-Ahaidib, A Al-Odaib and F S Alkuraya

Clinical genetics, Vol.82(2), pp.193-196

Received 25 April 2011, revised and accepted for publication 3 June 2011

08/2012

PMID: 21651516

Abstract

acidosis

microcephaly

oxoprolinuria

pyroglutamic aciduria

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Title: 5-Oxoprolinase deficiency: report of the first human OPLAH mutation
Creators - without role: I A Almaghlouth - King Saud University
J Y Mohamed - King Faisal Specialist Hospital & Research Centre
M Al-Amoudi - King Faisal Specialist Hospital & Research Centre
L Al-Ahaidib - King Faisal Specialist Hospital & Research Centre
A Al-Odaib - King Faisal Specialist Hospital & Research Centre
F S Alkuraya - King Saud University
Publication Details: Clinical genetics, Vol.82(2), pp.193-196
Publisher: Blackwell Publishing Ltd
Edition: Received 25 April 2011, revised and accepted for publication 3 June 2011
Number of pages: 4
Identifiers: 9913400208331
Academic Unit: King Khalid University; King Faisal University; King Saud University; Alfaisal University
Language: English
Resource Type: Journal article