Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype (Q24517908)

2

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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

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H Sakuraba

13

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Y Suzuki

14

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O P van Diggelen

Journal of Medical Genetics

15

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language of work or name

English

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publication date

June 1996

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published in

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volume

33

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issue

6

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page(s)

458-64

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cites work

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

27 September 2017

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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

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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.

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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

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

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

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Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease

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

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

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Human beta-mannosidase deficiency

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

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020