Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
about
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humansGaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
P2860
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
description
2004 nî lūn-bûn
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2004年の論文
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name
Intrauterine onset of acute ne ...... of a novel insertion sequence.
@en
Intrauterine onset of acute ne ...... of a novel insertion sequence.
@nl
type
label
Intrauterine onset of acute ne ...... of a novel insertion sequence.
@en
Intrauterine onset of acute ne ...... of a novel insertion sequence.
@nl
prefLabel
Intrauterine onset of acute ne ...... of a novel insertion sequence.
@en
Intrauterine onset of acute ne ...... of a novel insertion sequence.
@nl
P2093
P356
P1476
Intrauterine onset of acute ne ...... of a novel insertion sequence
@en
P2093
Johannes Uhl
Jürgen Kopitz
Martin Vogel
Michael Obladen
Roland Penzel
Ursula Felderhoff-Mueser
P304
P356
10.1002/AJMG.A.20445
P407
P577
2004-07-01T00:00:00Z