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Tony Rupar

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The Journal of Pediatrics|December 9, 2008

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismIsabelle R Miousse, David Watkins, David Coelho, et al.

Journal of Inherited Metabolic Disease|October 28, 2010

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Stefan Kölker, Dione Ng, et al.

Molecular Genetics and Metabolism|May 31, 2008

Heparin cofactor II-thrombin complex: a biomarker of MPS diseaseDerrick R Randall, Karen E Colobong, Harmony Hemmelgarn, et al.

Brain Communications|February 18, 2025

Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.

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Search research articles

Showing results (11-20 of 14) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 14 results.

The Journal of Pediatrics|December 9, 2008

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismIsabelle R Miousse, David Watkins, David Coelho, et al.

Journal of Inherited Metabolic Disease|October 28, 2010

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Stefan Kölker, Dione Ng, et al.

Molecular Genetics and Metabolism|May 31, 2008

Heparin cofactor II-thrombin complex: a biomarker of MPS diseaseDerrick R Randall, Karen E Colobong, Harmony Hemmelgarn, et al.

Brain Communications|February 18, 2025

Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.

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