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Advances in Clinical Chemistry|August 7, 2024
Glycosaminoglycans in mucopolysaccharidoses and other disordersShaukat A Khan, Fnu Nidhi, Andrés Felipe Leal, et al.JIMD Reports|June 27, 2019
Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiencyMorteza Alijanpour, Hideo Sasai, Elsayed Abdelkreem, et al.Diagnostics (Basel, Switzerland)|September 28, 2021
Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other DisordersPaige C Amendum, Shaukat Khan, Seiji Yamaguchi, et al.Journal of Inherited Metabolic Disease|June 3, 2021
In vitro functional analysis of four variants of human asparagine synthetaseHideki Matsumoto, Nana Kawashima, Takahiro Yamamoto, et al.Molecular Genetics and Metabolism|August 20, 2023
Molecular Trojan Horses for treating lysosomal storage diseasesAndrés Felipe Leal, Orhan Kerim Inci, Volkan Seyrantepe, et al.Journal of Inherited Metabolic Disease|April 13, 2020
Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fastingHiroki Otsuka, Takeshi Kimura, Yasuhiko Ago, et al.Experimental and Therapeutic Medicine|September 21, 2020
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutationsYasuhiko Ago, Hiroki Otsuka, Hideo Sasai, et al.Diagnostics (Basel, Switzerland)|August 27, 2021
Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and GlycosaminoglycansNivethitha Arunkumar, Dung Chi Vu, Shaukat Khan, et al.Journal of Inherited Metabolic Disease|May 17, 2026
Natural History of Morquio A SyndromeShunji Tomatsu, Kimberly Klipner, Marie Sahou, et al.Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.Pageof 2