(Q24533534)

4 July 2017

title

Dominant inheritance of sialuria, an inborn error of feedback inhibition (English)

1 reference

4 July 2017

Leroy JG

1

J G

Leroy

1 reference

4 July 2017

Seppala R

2

R

Seppala

1 reference

4 July 2017

Huizing M

3

M

Huizing

1 reference

4 July 2017

Dacremont G

4

G

Dacremont

1 reference

4 July 2017

De Simpel H

5

H

De Simpel

1 reference

4 July 2017

Van Coster RN

6

R N

Van Coster

1 reference

4 July 2017

Orvisky E

7

E

Orvisky

1 reference

4 July 2017

Krasnewich DM

8

D M

Krasnewich

1 reference

4 July 2017

Gahl WA

9

W A

Gahl

1 reference

4 July 2017

language of work or name

English

0 references

publication date

18 April 2001

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

68

1 reference

4 July 2017

issue

6

1 reference

4 July 2017

page(s)

1419-1427

1 reference

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

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

Clinical and biochemical studies in an American child with sialuria

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

Identification of the metabolic defect in sialuria

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

24 March 2017

Sialuria: a second case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

THE FEEDBACK CONTROL OF SUGAR NUCLEOTIDE BIOSYNTHESIS IN LIVER

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

I-cell disease (mucolipidosis II):a report on its pathology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

Description of a new type of melituria, called sialuria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

I-cell disease: biochemical studies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

Sialuria: a follow‐up report

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

Sialuria: an original metabolic disorder

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226128

A simple detection of sialic acid storage disorders by urinary 'free' and 'total' sialic acid determinations

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11326336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11326336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sialic acid metabolism in sialuria fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11326336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/320598

1 reference

release_lf2q34qjs5hirnorl4wq62q5se

4 July 2017

Fatcat ID

0 references

PMC publication ID

1226128

1 reference

4 July 2017

1 reference