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News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… reduced survival, growth retardation, and combined methylmalonic academia and hyperhomocysteinemia. Session #72: … (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic Acidemia. (Molecular Basis of Mendelian Disorders) 2957W. …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… focuses on the experience of a patient afflicted with methylmalonic acidemia (MMA) and how research by the Venditti laboratory is …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… Families Work with NIH Researchers to Advance Research on Methylmalonic Acidemia Upcoming Videocasts & Webinars Eighty-Fifth Meeting: …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… C. Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the … screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and … viral capsids in patients with mut methylmalonic acidemia. Hum Gene Ther, 27:345-353. 2016. [ PubMed ] Larsen, …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2024.
… Research Highlights Manoli et al. – "Lipodystrophy in Methylmalonic Acidemia Associated with Elevated FGF21 and Abnormal …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2022.
… Head et al. – “Aberrant Methylmalonylation Underlies Methylmalonic Acidemia and Is Attenuated by an Engineered Sirtuin” Awotoye …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… . April 5, 2021: NIH scientists develop breath test for methylmalonic acidemia . May 17, 2021: NHGRI director appoints Vence Bonham …