5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
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Genetics and genomic medicine in Saudi Arabia5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesWhat is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD)Defective OPLAH does not hydrolyse OPRONew insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition
P2860
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
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5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
@en
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
@nl
type
label
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
@en
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
@nl
prefLabel
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
@en
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
@nl
P2093
P2860
P1433
P1476
5-Oxoprolinase deficiency: report of the first human OPLAH mutation
@en
P2093
A Al-Odaib
I A Almaghlouth
J Y Mohamed
L Al-Ahaidib
M Al-Amoudi
P2860
P304
P356
10.1111/J.1399-0004.2011.01728.X
P577
2011-06-30T00:00:00Z