Diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency via Epilepsy Gene Panel Screening in a Patient with Atypical Presentation

Autor: Emily Gantz, J. Daniel Sharer, Tony M. McGrath

Publikováno v: Child Neurology Open. 10:2329048X2311610

We describe an atypical presentation of a girl with aromatic L-amino acid decarboxylase (AADC) deficiency identified via a genetic testing program for children with epilepsy. At 21 months of age, she presented with poor head control, diffuse hypotoni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::867ce68fb4c377a010b0749895fbe4f5
https://doi.org/10.1177/2329048x231161027

Neurofibromin is essential to maintain metabolic function and sustain life in the adult mouse

Autor: Ashley N Turner, Maria S Johnson, Stephanie N Brosius, Brennan S. Yoder, Kevin Yang, Qinglin Yang, John F Moore, J. Daniel Sharer, Daniel L Smith, Tim R Nagy, Trent R Schoeb, Bruce R Korf, Robert A Kesterson

The consequences of pathogenic variants in the NF1 gene can manifest in numerous tissues as a result of loss of neurofibromin protein function(s). A known function of NF1 is negative regulation of p21ras signaling via a GTPase activating (Ras-GAP) do

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01a4e5688c0ff3781d4937be8b059a16
https://doi.org/10.1101/324061

Laboratory diagnosis of creatine deficiency syndromes:A technical standard and guideline of the American College of Medical Genetics and Genomics

Autor: Olaf Bodamer, Sarah P. Young, Mirjam M.C. Wamelink, Silvia Tortorelli, Nicola Longo, J. Daniel Sharer

Publikováno v: Daniel Sharer, J, Bodamer, O, Longo, N, Tortorelli, S, Wamelink, M M C & Young, S 2017, ' Laboratory diagnosis of creatine deficiency syndromes : A technical standard and guideline of the American College of Medical Genetics and Genomics ', Genetics in Medicine, vol. 19, no. 2, pp. 256-263 . https://doi.org/10.1038/gim.2016.203

Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625cae8d062806b195e430658813d0fc
https://research.vumc.nl/en/publications/823ebcf7-ec69-4268-9be5-8e9706745eda

Quantitative Analysis of Total Plasma Homocysteine by LC-MS/MS

Autor: Libin Yuan, J. Daniel Sharer

Publikováno v: Current Protocols in Human Genetics

Homocysteine is a nonessential, sulfur-containing amino acid involved in one-carbon (folate) metabolism. A number of inherited and acquired conditions cause increased accumulation of this metabolite in blood (homocysteinemia) and other biofluids. Hom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7d0fc212c388b64308fc76acc47b915
https://pubmed.ncbi.nlm.nih.gov/27037487

Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse

Autor: Trenton R. Schoeb, Philip A. Wood, Yun You, Charles L. Hoppel, Janos Kerner, J. Daniel Sharer, Wallace S. Chick, Doug A. Hamm, Shaonin Ji

Publikováno v: Molecular Genetics and Metabolism. 93:314-322

Carnitine palmitoyltransferase-1 (CPT-1) catalyzes the rate-limiting step of mitochondrial beta-oxidation of long chain fatty acids (LCFA), the most abundant fatty acids in mammalian membranes and in energy metabolism. Human deficiency of the muscle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ee1d7222691fcadf75a4af84a283e0
https://doi.org/10.1016/j.ymgme.2007.10.006