Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). (Q34544070)

2 August 2017

Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). (English)

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2 August 2017

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Hitoshi Sakuraba

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2 August 2017

Fumiko Matsuzawa

2

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2 August 2017

Sei-ichi Aikawa

3

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2 August 2017

Hirofumi Doi

4

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2 August 2017

Masaharu Kotani

5

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2 August 2017

Hiroshi Nakada

6

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2 August 2017

Tomoko Fukushige

7

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2 August 2017

Tamotsu Kanzaki

8

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2 August 2017

language of work or name

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19 December 2003

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Journal of Human Genetics

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2 August 2017

49

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1

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1-8

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https://scigraph.springernature.com/pub.10.1007/s10038-003-0098-z

2 August 2017

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The 1.9 A structure of alpha-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases

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12 December 2020

Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

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12 December 2020

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis

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

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Developmental expression of a unique carbohydrate antigen, Tn antigen, in mouse central nervous tissues.

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12 December 2020

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria

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Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene

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12 December 2020

Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies

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12 December 2020

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

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12 December 2020

Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders

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12 December 2020

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

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12 December 2020

Isolation and structural characterization of sialic-acid-containing glycopeptides of the O-glycosidic type from the urine of two patients with an hereditary deficiency in alpha-N-acetylgalactosaminidase activity.

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12 December 2020

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

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12 December 2020

Studies on Hemagglutinins from Maackia amurensis Seeds

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12 December 2020

Isolation and characterization of major urinary amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease). Excessive excretion of serine- and threonine-linked glycan in the patient urine

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12 December 2020

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

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Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

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12 December 2020

Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease

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12 December 2020

Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker

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12 December 2020

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

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T and Tn, general carcinoma autoantigens

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Molecular and structural studies of the GM2 gangliosidosis 0 variant.

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Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria

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12 December 2020

Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum

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12 December 2020

10.1007/S10038-003-0098-Z

Identifiers

DOI

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2 August 2017

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