Search results

Articles (5)

Journals (0)

1-5 of 5 results for inborn errors in lipid metabolism

Sort by:

Relevance

Select all

Sort by:

Relevance

Free access

Case report

First published 2014-9

A novel missense SMPD1 gene mutation,T460P,and clinical findings in a patient with Niemann–Pick disease type B presenting to a lipid disorders clinic

Yael Grasko, Amanda J Hooper, John R Burnett [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted access

Research article

First published 2003-5

Dinesh Rakheja, Golder N. Wilson, Beverly B. Rogers

Pediatric and Developmental Pathology

Retricted access

Research article

First published 2012-05

Imen Ben-Rebeh, Jozef L. Hertecant, Fatma A. Al-Jasmi [...]

Genetic Testing and Molecular Biomarkers

Free access

Review article

First published 2012-5

Jacob M. Kneeman, Joseph Misdraji, Kathleen E. Corey

Therapeutic Advances in Gastroenterology

Retricted access

Other

First published 1999-11

Marc C. Patterson

Journal of Child Neurology