William Gahl

National Institutes of Health, Bethesda, MD 
"William Gahl"
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Shekhar S, Irizarry-Caro JA, Sinaii N, et al. (2021) Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease. Cancers. 13
Ferreira CR, Kintzinger K, Hackbarth ME, et al. (2021) Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research
Cinar R, Park JK, Zawatsky CN, et al. (2021) CB R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome. Clinical and Translational Medicine. 11: e471
Xiao C, Markello T, Zein WM, et al. (2021) PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1. Neurology. Genetics. 7: e606
Carrillo N, Malicdan MC, Leoyklang P, et al. (2021) Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Debs S, Ferreira CR, Groden C, et al. (2021) Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. American Journal of Medical Genetics. Part A
Burke EA, Sturgeon M, Zastrow DB, et al. (2021) Compound heterozygous variants in progressive myoclonus epilepsy. Journal of Neurogenetics. 1-10
Huizing M, Hackbarth ME, Adams DR, et al. (2021) Mini-Review Free Sialic Acid Storage Disorder: Progress and Promise. Neuroscience Letters. 135896
Fuentes F, Carrillo N, Wilkins KJ, et al. (2020) Elevated plasma free sialic acid levels in individuals with reduced glomerular filtration rates. Kidney360. 1: 957-961
Rubinstein YR, Robinson PN, Gahl WA, et al. (2020) The case for open science: rare diseases. Jamia Open. 3: 472-486
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