(Q28299485)

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

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title

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

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1 reference

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A Chabás

1

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M J Coll

series ordinal

2

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M Aparicio

series ordinal

3

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E Rodriguez Diaz

series ordinal

4

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language of work or name

English

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publication date

1994

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published in

Journal of Inherited Metabolic Disease

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volume

17

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issue

6

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page(s)

724-31

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cites work

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

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Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatic glycogenosis with defects in the glycogen breakdown pathway: urinary oligosaccharide profile

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for urinary oligosaccharides and simple sugars by thin-layer chromatography

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7707696

retrieved

12 December 2020

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Identifiers

DOI

10.1007/BF00712015

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Dimensions Publication ID

1025430668

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PubMed publication ID

7707696

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(Q28299485)

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

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