Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.

Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.

Item
http://www.wikidata.org/entity/Q34672893
Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from JordanMutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.An update on molecular genetics of Alkaptonuria (AKU).Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel MutationsIdentification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation DatabaseAlkaptonuria: leading to the treasure in exceptions.Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.Alkaptonuria diagnosed in a 4-month-old baby girl: a case report.Alkaptonuria.Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.Three-generational alkaptonuria in a non-consanguineous family.Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
P2860

Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.

Item
http://www.wikidata.org/entity/Q34672893
description
2002 nî lūn-bûn
@nan
2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
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name
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@ast
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@en
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@nl
type
label
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@ast
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@en
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@nl
prefLabel
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@ast
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@en
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
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P698
P356
P1433
P1476
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
@en
P2093
P304
P31
P356
10.1016/S1096-7192(02)00002-1
P433
P478
P577
P698