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1-6 of 6 results for PMM2

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Restricted accessBrief reportFirst published June, 2019

Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl

Rajni Farmania, Puneet Jain, Suvasini Sharma [...]

Journal of Child Neurology

Open accessResearch articleFirst published 2025

KIAA0319 modulates Alzheimer's disease risk through PMM2 regulation: Evidence from integrated pQTL-mediation and transcriptomic analyses

Peng Wen, Chong Han, Hongxin Zhao [...]

Journal of Alzheimer's Disease Reports

Open accessCase reportFirst published July, 2013

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia ( PMM2 Deficiency)

Bradley S. Miller, Meghann M. Duffy, O. Yaw Addo [...]

Journal of Investigative Medicine High Impact Case Reports

Restricted accessBrief reportFirst published September, 2000

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

Open accessReview articleFirst published 2022

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Konstantin Feinberg

Therapeutic Advances in Rare Disease

Restricted accessResearch articleFirst published September, 1999

Prenatal Diagnosis and the Subsequent Mutation Analysis in a Family with Carbohydrate-Deficient Glycoprotein Type I Syndrome: Growing Evidence to Support Founder Effects within CDG1 Populations

Andrew Crosby, Steve Jeffery, Tessa Homfray [...]

Genetic Testing and Molecular Biomarkers

Search results

Articles (6)

Journals (0)

1-6 of 6 results for PMM2

Sort by:

Relevance

Select all

Sort by:

Relevance

Restricted accessBrief reportFirst published June, 2019

Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl

Rajni Farmania, Puneet Jain, Suvasini Sharma [...]

Journal of Child Neurology

Open accessResearch articleFirst published 2025

KIAA0319 modulates Alzheimer's disease risk through PMM2 regulation: Evidence from integrated pQTL-mediation and transcriptomic analyses

Peng Wen, Chong Han, Hongxin Zhao [...]

Journal of Alzheimer's Disease Reports

Open accessCase reportFirst published July, 2013

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia ( PMM2 Deficiency)

Bradley S. Miller, Meghann M. Duffy, O. Yaw Addo [...]

Journal of Investigative Medicine High Impact Case Reports

Restricted accessBrief reportFirst published September, 2000

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

Open accessReview articleFirst published 2022

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Konstantin Feinberg

Therapeutic Advances in Rare Disease

Restricted accessResearch articleFirst published September, 1999

Prenatal Diagnosis and the Subsequent Mutation Analysis in a Family with Carbohydrate-Deficient Glycoprotein Type I Syndrome: Growing Evidence to Support Founder Effects within CDG1 Populations

Andrew Crosby, Steve Jeffery, Tessa Homfray [...]

Genetic Testing and Molecular Biomarkers