Congenital lysinuria: A new inherited transport disorder of dibasic amino acids

Kazuhiko Oyanagi, Ryoichi Miura, Toyoshige Yamanouchi

The Journal of Pediatrics

Congenital LysinuriaUrologyBiochemistryDibasic Amino AcidsInherited Metabolic Disease +2

Dubin-Johnson syndrome in a neonate

Fumiteru Nakata, Kazuhiko Oyanagi, Mayumi Fujiwara, +5

European Journal of Pediatrics

Down SyndromeDubin-johnson SyndromeDevelopmental AnomalyNeonatologyPathogenesis +4

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency

Satoru Komaki, Toshinobu Matsuura, Kazuhiko Oyanagi, +5

American Journal of Medical Genetics

Mutated Paternal GeneCytogeneticsGeneticsPathologyMolecular Genetics +16

Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation

Hideaki Sogawa, Kiyotaka Horino, Fukumi Nakamura, +7

European Journal of Pediatrics

Chronic Niemann-pick DiseaseMendelian DisorderNeurological DisorderSphingomyelinase DeficiencyGenetic Disorder +8

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency

Toshinobu Matsuura, Ryuuji Hoshide, Kohji Kiwaki, +11

Human Mutation

Genetic DisorderGeneticsPathologyOrnithine TranscarbamylaseMedicine +2

Identification of keratan sulfate in liver affected by morquio syndrome

Ryoji Minami, Katsuyuki Abo, Tooru Kudoh, +3

Clinica Chimica Acta

HepatologyMedicineLiver PhysiologyGastroenterologyPathology +4

A Study of Urea-synthesizing Enzymes in Prenatal and Postnatal Human Liver

Kazuhiko Oyanagi, Kimie Nakamura, Hideaki Sogawa, +3

Pediatric Research

BiosynthesisAldehyde DehydrogenaseHepatologyBiochemistryUrea-synthesizing Enzymes +10

Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria

Keiko Kobayashi, Yoshihiro Itakura, Takeyori Saheki, +5

Clinica Chimica Acta

UrologyPathologyMicrobiologyMedicineArgininosuccinate Lyase Protein +1

Nonlinear elimination of benzoate in patients with congenital hyperammonemia

Kazuhiko Oyanagi, Yoshinori Kuniya, AKIRA TSUCHIYAMA, +4

The Journal of Pediatrics

Pediatric HematologyMedicineHematologyPediatricsNonlinear Elimination +3

Fluorometric measurement of .ALPHA.-L-iduronidase activity using 4-methylumbelliferyl-.ALPHA.-L-iduronide.

Ryoji Minami, Yoko Watanabe, Tooru Kudoh, +2

The Tohoku Journal of Experimental Medicine