Mika Matsumori

Effects of Citrin Deficiency in the Perinatal Period: Feasibility of Newborn Mass Screening for Citrin Deficiency

Akiko Tamamori, Akie Fujimoto, Yoshiyuki Okano et al. · Pediatric Research · 2004 · 51 citations · Full text

Medicine, Child Health, Pediatrics +12

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

Atsuko Noguchi, Yutaka Shoji, Yutaka Shoji et al. · Human Mutation · 2000 · 39 citations

Life Sciences, Genetics, Molecular Genetics +16

Five novelSLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance

Yutaka Shoji, Yutaka Shoji, Atsuko Noguchi et al. · Human Mutation · 2002 · 35 citations

Life Sciences, Genetics, Molecular Genetics +8

3‐Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease

Ya. Shoji, Tsutomu Takahashi, Yukio Sawaishi et al. · Journal of Inherited Metabolic Disease · 1999 · 22 citations

Life Sciences, Neurology, Neuroscience +8

Stroke-like Episode Involving a Cerebral Artery in a Patient With MELAS

Atsuko Noguchi, Yutaka Shoji, Mika Matsumori et al. · Pediatric Neurology · 2005 · 20 citations

Life Sciences, Neurology, Neuroscience +8