Showing results (51-60 of 70) with videos related to

Sort By:
Pageof 7
European Journal of Medical Genetics|August 11, 2015
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patientsDeepti Gupta, Sunita Bijarnia-Mahay, Renu Saxena, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|September 4, 2024
Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBIKeiko Konomura, Chikahiko Numakura, Akari Nakamura-Utsunomiya, et al.
Pediatric Research|August 2, 2008
Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in JapanGo Tajima, Nobuo Sakura, Kenichiro Shirao, et al.
Molecular Genetics and Metabolism|February 24, 2009
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent periodHironori Nagasaka, Yoshiyuki Okano, Hirokazu Tsukahara, et al.
Modern Rheumatology|March 15, 2011
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutationMasahiro Tahara, Hidemasa Sakai, Ryuta Nishikomori, et al.
Human Genetics|August 22, 2002
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implicationsTohru Yorifuji, Masahiko Kawai, Junko Muroi, et al.
International Journal of Neonatal Screening|July 21, 2021
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine RemethylationReiko Kagawa, Go Tajima, Takako Maeda, et al.
Molecular Genetics and Metabolism|March 8, 2016
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in JapanKeiichi Hara, Go Tajima, Satoshi Okada, et al.
Pediatric Research|February 9, 2022
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading testKeiichi Sugihara, Miori Yuasa, Yuko Isozaki, et al.
Genetic Testing and Molecular Biomarkers|May 27, 2016
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their OutcomesDeepti Gupta, Sunita Bijarnia-Mahay, Sudha Kohli, et al.
Pageof 7