Publications by authors named "May C V Malicdan"

5Publications

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.

J Inherit Metab Dis 2020 Sep 3;43(5):1037-1045. Epub 2020 Jun 3.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.

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http://dx.doi.org/10.1002/jimd.12249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7508799PMC
September 2020

Hermansky-Pudlak syndrome: Mutation update.

Hum Mutat 2020 Mar 23;41(3):543-580. Epub 2020 Jan 23.

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/humu.23968DOI Listing
March 2020

Rationale and Design for a Phase 1 Study of -Acetylmannosamine for Primary Glomerular Diseases.

Kidney Int Rep 2019 Oct 25;4(10):1454-1462. Epub 2019 Jun 25.

Kidney Disease Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.ekir.2019.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829193PMC
October 2019

A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.

Transl Res 2020 01 28;215:31-40. Epub 2019 Aug 28.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.trsl.2019.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6939610PMC
January 2020