Author

Makoto Yoshino

Observed names: M YOSHINO, M Yoshino, M. Yoshino, MAKOTO YOSHINO, Makoto YOSHINO, Yoshino Makoto

Observed institutions: Kurume University, University of Iowa, University of Antwerp, National University of Singapore, Centre Hospitalier Universitaire Sainte-Justine, Osaka City University, Nagoya City University, University of California San Diego, Kumamoto City Hospital, Kurume University Hospital, Kurume University Medical Center, Nagoya University, Kumamoto University

ORCID: 0000-0001-9048-1490

Observed ORCID: 0000-0001-9048-1490

OpenAlex ID: A5082862780

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

1999 · Jun-ichi Nezu, Ikumi Tamai, et al. · Nature Genetics · 552

Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patients

1988 · Norio Niikawa, Yoshikazu Kuroki, et al. · American Journal of Medical Genetics · 453

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

2005 · Haruo Shintaku, Shigeo Kure, et al. · Zhongguo dangdai erke zazhi · 254

MLL2 and KDM6A mutations in patients with Kabuki syndrome

2013 · Noriko Miyake, Eriko Koshimizu, et al. · American Journal of Medical Genetics Part A · 190

Multiple Biotin-dependent Carboxylase Deficiencies Associated With Defects in T-cell and B-cell Immunity

1979 · MortonJ. Cowan, Seymour Packman, et al. · The Lancet · 172

Long‐term outcome and intervention of urea cycle disorders in Japan

2011 · Jun Kido, Kimitoshi Nakamura, et al. · Journal of Inherited Metabolic Disease · 127

Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary Biotin

1981 · Jess Thoene, Herman Baker, et al. · New England Journal of Medicine · 98

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene

2003 · Haruo Shintaku, Shigeo Kure, et al. · Pediatric Research · 93

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

2002 · Y Watanabe, D W Benson, et al. · Journal of Medical Genetics · 91

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Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria

2011 · Yoshitami Sanayama, Hironori Nagasaka, et al. · Molecular Genetics and Metabolism · 89

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

2003 · Hong-Zhi Gao, Keiko Kobayashi, et al. · Human Mutation · 83

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Guanidino Compound Analysis as a Complementary Diagnostic Parameter for Hyperargininemia: Follow-Up of Guanidino Compound Levels during Therapy

1990 · B Marescau, P P De Deyn, et al. · Pediatric Research · 70

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

2009 · Takanobu Otomo, Takeshi Muramatsu, et al. · Journal of Human Genetics · 69

Metabolism of branched medium chain length fatty acid. II—β-oxidation of sodium dipropylacetate in rats

1976 · Isamu Matsumoto, Tomiko Kuhara, et al. · Journal of Mass Spectrometry · 64

Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty‐two Japanese male patients with ornithine transcarbamylase deficiency

1991 · I. Matsuda, N. Nagata, et al. · American Journal of Medical Genetics · 54

Successful Carnitine Treatment in Two Siblings Having Lipid Storage Myopathy with Hypertrophic Cardiomyopathy

1985 · T. Matsuishi, K. Hirata, et al. · Neuropediatrics · 52

The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females

2002 · T. Kubota, K. Wakui, et al. · Cytogenetic and Genome Research · 49

Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty‐nine Japanese patients with urea cycle enzymopathies

1991 · N. Nagata, I. Matsuda, et al. · American Journal of Medical Genetics · 47

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

1983 · Kuhara Tomiko, Shinka Toshihiro, et al. · Clinica Chimica Acta · 47

Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

2011 · Hironori Nagasaka, Hirokazu Tsukahara, et al. · Journal of Bone and Mineral Metabolism · 44

Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism

2010 · Norikazu Shimizu, Junko Fujiwara, et al. · Translational research · 42

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

2007 · Keiji Kurokawa, Tohru Yorifuji, et al. · Journal of Human Genetics · 42

Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray

2009 · Satoshi Narumi, Chikahiko Numakura, et al. · American Journal of Medical Genetics Part A · 40

Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction

1986 · Y. Sakaguchi, M. Yoshino, et al. · European Journal of Pediatrics · 40

Ornithine Transcarbamylase Deficiency in Male Adolescence and Adulthood

2017 · M. Yoshino, J. Nishiyori, et al. · Enzyme · 36

Works count: 138

Citation count: 4,029

H-index: 31

I10-index: 71