(Q44481336)

English

Defective proximal tubular function in a patient with I-cell disease

scientific article published on 13 June 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Defective proximal tubular function in a patient with I-cell disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

author name string

G Bocca

1

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

L A H Monnens

2

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

publication date

13 June 2003

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Pediatric Nephrology

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

18

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

830-832

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

I-cell disease presenting with severe hypophosphatemia and cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular structure and physiological function of chloride channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trafficking of lysosomal enzymes in normal and disease states

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inter‐ and intrafamilial variability in mucolipidosis II (I‐cell disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cisplatin-induced inhibition of receptor-mediated endocytosis of protein in the kidney

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chloride channels in the kidney: lessons learned from knockout animals

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cadmium inhibits vacuolar H(+)-ATPase and endocytosis in rat kidney cortex

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physiological importance of endosomal acidification: potential role in proximal tubulopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12811655

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00467-003-1213-2

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

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