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JIMD Reports|December 18, 2017
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse MyelitisC Bursle, K Riney, J Stringer, et al.JIMD Reports|July 30, 2015
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null MutationBeyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, et al.JIMD Reports|May 13, 2018
Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal InversionKatsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, et al.JIMD Reports|May 11, 2017
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body MetabolismRaashda Ainuddin Sulaiman, Maha Al-Nemer, Rubina Khan, et al.JIMD Reports|April 30, 2018
P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 YearsHiroshi Kobayashi, Masamichi Ariga, Yohei Sato, et al.JIMD Reports|July 12, 2018
The Second Case of Saposin A Deficiency and Altered AutophagyMelis Kose, Secil Akyildiz Demir, Gulcin Akinci, et al.JIMD Reports|July 8, 2018
Psychosocial Functioning in Parents of MPS III PatientsThirsa Conijn, Stephanie C M Nijmeijer, Hedy A van Oers, et al.JIMD Reports|August 18, 2018
Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating PregnancyChristoffer V Madsen, Erik Ilsø Christensen, Rikke Nielsen, et al.JIMD Reports|September 7, 2018
Screening for Niemann-Pick Type C Disease in a Memory Clinic CohortAndreas Traschütz, Michael Thomas HenekaJIMD Reports|September 14, 2016
Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare DiseasesChristopher Newell, Barbara Ramage, Alberto Nettel-Aguirre, et al.Pageof 127