Successful newborn screening for Gaucher disease using fluorometric assay in China.

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A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.

P2860

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Successful newborn screening for Gaucher disease using fluorometric assay in China.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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Successful newborn screening for Gaucher disease using fluorometric assay in China.

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Successful newborn screening for Gaucher disease using fluorometric assay in China.

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Successful newborn screening for Gaucher disease using fluorometric assay in China.

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P1476

Successful newborn screening for Gaucher disease using fluorometric assay in China.

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P2093

Huiwen Zhang

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Lulu Kang

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Xia Zhan

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Xuefan Gu

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Protein measurement with the Folin phenol reagent

Gaucher disease: a comprehensive review.

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

The human glucocerebrosidase gene and pseudogene: structure and evolution.

High incidence of later-onset fabry disease revealed by newborn screening

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients

Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population

P2888

jhg.2017.36

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scholarly article

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10.1038/JHG.2017.36

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2017-03-30T00:00:00Z

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1084128240

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Successful newborn screening for Gaucher disease using fluorometric assay in China.

about

P2860

P2860

Successful newborn screening for Gaucher disease using fluorometric assay in China.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698

P932