Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

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Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

Nine-year experience in Gauche ...... center Fundación Jiménez Díaz

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Nine-year experience in Gauche ...... center Fundación Jiménez Díaz.

@nl

type

Item

label

Nine-year experience in Gauche ...... center Fundación Jiménez Díaz

@en

Nine-year experience in Gauche ...... center Fundación Jiménez Díaz.

@nl

prefLabel

Nine-year experience in Gauche ...... center Fundación Jiménez Díaz

@en

Nine-year experience in Gauche ...... center Fundación Jiménez Díaz.

@nl

P1476

Nine-year experience in Gauche ...... center Fundación Jiménez Díaz

@en

P2093

C Vélez-Monsalve

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J Gallego-Merlo

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M J Trujillo-Tiebas

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N V Ortiz-Cabrera

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R de Nicolas

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P2860

The human chitotriosidase gene. Nature of inherited enzyme deficiency

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews

The role of saposin C in Gaucher disease

A method and server for predicting damaging missense mutations

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Gaucher disease: haematological presentations and complications.

Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.

Gaucher disease: insights from a rare Mendelian disorder.

P304

79-85

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scholarly article

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10.1016/J.YMGMR.2016.06.008

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P478

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P50

Carmen Ayuso

Sebastian Mas

P577

2016-11-13T00:00:00Z

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P698

27872820

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5109262

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