(Q52131571)

English

Clinical course and biochemistry of sialuria.

scientific article published in June 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

Clinical course and biochemistry of sialuria. (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

author name string

G M Enns

1

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

R Seppala

2

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

T J Musci

3

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

K Weisiger

4

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

L D Ferrell

5

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

D A Wenger

6

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

W A Gahl

7

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

S Packman

8

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

publication date

1 June 2001

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

24

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

3

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

328-336

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

Uridine diphosphate N-acetyl-D-glucosamine-2-epimerase from rat liver. I. Catalytic and regulatory properties

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the metabolic defect in sialuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialuria: an original metabolic disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical studies in an American child with sialuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Description of a new type of melituria, called sialuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

THE FEEDBACK CONTROL OF SUGAR NUCLEOTIDE BIOSYNTHESIS IN LIVER

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialuria: a follow‐up report

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialic acid metabolism in sialuria fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialuria: a second case

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1010588115479

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11486897

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