Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria (Q34941297)

5 August 2017

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title

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria (English)

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5 August 2017

Vargas-Díez E

1

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5 August 2017

Chabás A

2

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5 August 2017

Coll MJ

3

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5 August 2017

Sánchez-Pérez J

4

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5 August 2017

García-Díez A

5

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5 August 2017

Fernández-Herrera JM

6

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5 August 2017

language of work or name

English

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publication date

1 October 2002

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British Journal of Dermatology

5 August 2017

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5 August 2017

147

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5 August 2017

4

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5 August 2017

760-764

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Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.

5 August 2017

1 reference

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Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04827.X

Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency

21 January 2018

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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

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A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation

21 January 2018

1 reference

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Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

21 January 2018

1 reference

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Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

21 January 2018

1 reference

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Early clinical symptoms and incidence of aspartylglucosaminuria in Finland

21 January 2018

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Two Japanese cases with aspartylglycosaminuria: clinical and morphological features

21 January 2018

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Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria

21 January 2018

1 reference

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Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis

21 January 2018

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Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine

21 January 2018

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Deficiency of α-L-Fucosidase

21 January 2018

1 reference

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Adult type neuronal storage disease with neuraminidase deficiency

21 January 2018

1 reference

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Angiokeratoma corporis diffusum in a patient with normal enzyme activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04827.X

Angiokeratoma corporis diffusum and normal enzyme activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04827.X

Impaired oral health in patients with aspartylglucosaminuria

21 January 2018

1 reference

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Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study

21 January 2018

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Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients

21 January 2018

1 reference

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10.1046/J.1365-2133.2002.04827.X

21 January 2018

Identifiers

DOI

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5 August 2017

1 reference