A case of Fabry's disease with congenital agammaglobulinemia.

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A case of Fabry's disease with congenital agammaglobulinemia.

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http://www.wikidata.org/entity/Q41872496

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2011 nî lūn-bûn

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2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

2011年论文

@zh

2011年论文

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name

A case of Fabry's disease with congenital agammaglobulinemia.

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label

A case of Fabry's disease with congenital agammaglobulinemia.

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prefLabel

A case of Fabry's disease with congenital agammaglobulinemia.

@en

P1476

A case of Fabry's disease with congenital agammaglobulinemia.

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P2093

Jin-Woo Hong

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Ki-Ho Kim

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Ki-Hoon Song

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Ki-Yeol Lee

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Su-Young Jeon

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Sung-Eun Kim

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Young-Hun Kim

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P2860

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.

Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.

Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.

Enzyme replacement therapy in Fabry disease.

Narrative review: Fabry disease.

New insights into the regulation and functions of Tec family tyrosine kinases in the immune system.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

P304

966-970

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P31

scholarly article

case report

P356

10.3346/JKMS.2011.26.7.966

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P433

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P478

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P577

2011-06-20T00:00:00Z

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P5875

51476094

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P698

21738355

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P921

birth defect

P932

3124732

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