(Q24517908)

2

0 references

M A Kroos

3

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R Willemsen

4

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M M Hermans

5

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A M van den Ouweland

6

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J G de Jong

7

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R A Wevers

8

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W O Renier

9

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D Schindler

10

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M J Coll

11

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A Chabas

12

0 references

H Sakuraba

13

0 references

Y Suzuki

14

0 references

O P van Diggelen

Journal of Medical Genetics

15

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language of work or name

English

0 references

publication date

June 1996

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published in

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volume

33

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page(s)

458-64

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issue

6

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cites work

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

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

19 March 2017

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

19 March 2017

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

19 March 2017

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Glycogenosis type II (acid maltase deficiency)

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A simple salting out procedure for extracting DNA from human nucleated cells

27 September 2017

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Molecular cloning of two species of cDNAs for human alpha-N-acetylgalactosaminidase and expression in mammalian cells

19 March 2017

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Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene

19 March 2017

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7 January 2021

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

27 September 2017

1 reference

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Characterization of One Neutral and Two Acidic Glycoasparagines Isolated from the Urine of Patients with Aspartylglycosylaminuria (AGU)1

27 September 2017

1 reference

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Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.

27 September 2017

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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.

30 May 2018

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Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement.

30 May 2018

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Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

30 May 2018

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

30 May 2018

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12 December 2020

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection

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12 December 2020

Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease

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12 December 2020

Structural studies of glycoasparagines from urine of a patient with aspartylglycosylaminuria (AGU)

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12 December 2020

Determination of sialic acid using 2-thiobarbituric acid in the absence of hazardous sodium arsenite

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12 December 2020

Human beta-mannosidase deficiency

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12 December 2020

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

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12 December 2020

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

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12 December 2020

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder

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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 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

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

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12 December 2020

Low concentration galactose determination in plasma adapted to the Cobas-Bio

1 reference

12 December 2020

A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases

1 reference

12 December 2020

Sialyl-alpha 2-6-mannosyl-beta 1-4-N-acetylglucosamine, a novel compound occurring in urine of patients with beta-mannosidosis

1 reference

12 December 2020

Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency

1 reference

12 December 2020