(Q37214739)

19 August 2017

0 references

The battlefield of rare diseases: where uncommon insights are common (English)

1 reference

19 August 2017

1 reference

William A Gahl

1

1 reference

PMC publication ID

3790314

19 August 2017

language of work or name

English

0 references

publication date

1 October 2012

1 reference

Science Translational Medicine

19 August 2017

1 reference

19 August 2017

4

1 reference

19 August 2017

154

1 reference

19 August 2017

154ed7

1 reference

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790314

NT5E mutations and arterial calcifications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790314

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790314

Natural history of alkaptonuria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790314

Improved renal function in children with cystinosis treated with cysteamine

6 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23035044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCITRANSLMED.3004980

1 reference

19 August 2017

1 reference

PMC publication ID

3790314

19 August 2017

PubMed publication ID

23035044

1 reference

PMC publication ID

3790314