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1-4 of 4 results for carbohydrate-deficient glycoprotein syndrome type Ia

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Brief report

First published 2000-09

Denaturing High-Performance Liquid Chromatography Is a Suitable Method for PMM2 Mutation Screening in Carbohydrate-Deficient Glycoprotein Syndrome Type IA Patients

Anna Erlandson, Helena Stibler, Bengt Kristiansson [...]

Genetic Testing and Molecular Biomarkers

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Review article

First published 1999-1

G Keir, B G Winchester, P Clayton

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2012-9

Sean Moore, Subha V. Raman

Journal of Child Neurology

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Other

First published 2001-06

Phillip L. Pearl, Donna Krasnewich

Journal of Child Neurology