Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
about
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of AspartylglucosaminuriaStructural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria.
P2860
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
description
2012 nî lūn-bûn
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2012年の論文
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name
Aspartylglucosaminuria: unusua ...... new cases in a Turkish family.
@en
Aspartylglucosaminuria: unusua ...... new cases in a Turkish family.
@nl
type
label
Aspartylglucosaminuria: unusua ...... new cases in a Turkish family.
@en
Aspartylglucosaminuria: unusua ...... new cases in a Turkish family.
@nl
prefLabel
Aspartylglucosaminuria: unusua ...... new cases in a Turkish family.
@en
Aspartylglucosaminuria: unusua ...... new cases in a Turkish family.
@nl
P2093
P2860
P356
P1476
Aspartylglucosaminuria: unusua ...... new cases in a Turkish family.
@en
P2093
Christine Fischer
Devjani Sengupta
Dorothea Haas
Friederike Bürger
Friedrich Ebinger
Georg F Hoffmann
Hilal Al-Rifai
Inga Harting
Johannes Zschocke
Noora Shahbeck
P2860
P356
10.1177/0883073812469049
P577
2012-12-26T00:00:00Z