(Q42175669)

18 October 2017

Familial lysinuric protein intolerance presenting as coma in two adult siblings (English)

1 reference

lysinuric protein intolerance

18 October 2017

1 reference

1 reference

1 reference

Shaw PJ

1

1 reference

18 October 2017

Dale G

series ordinal

2

1 reference

18 October 2017

Bates D

series ordinal

3

1 reference

18 October 2017

language of work or name

English

0 references

publication date

1 May 1989

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

18 October 2017

1 reference

18 October 2017

52

1 reference

18 October 2017

648-651

1 reference

18 October 2017

5

1 reference

"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032181

Lysinuric protein intolerance

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032181

Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032181

Lysinuric protein intolerance

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032181

Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism

29 May 2018

1 reference

12 December 2020

Enzymes of Urea Synthesis in Familial Protein Intolerance with Deficient Transport of Basic Amino Acids

1 reference

12 December 2020

Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia

1 reference

12 December 2020

Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34]

1 reference

12 December 2020

Congenital lysinuria: A new inherited transport disorder of dibasic amino acids

1 reference

12 December 2020

Hyperlysinuria with hyperammonemia. A new metabolic disorder

1 reference

12 December 2020

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy

1 reference

12 December 2020

Diamino Acid Transport into Granulocytes and Liver Slices of Patients with Lysinuric Protein Intolerance

1 reference

12 December 2020

Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.52.5.648

1 reference

18 October 2017

1 reference

18 October 2017

1 reference