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Yoshino, Makoto
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1

Moving towards a novel therapeutic strategy for hyperammone..:

Fukui, Kaori ; Takahashi, Tomoyuki ; Matsunari, Hitomi...
Journal of Inherited Metabolic Disease.  45 (2022)  6 - p. 1059-1069 , 2022
Link: https://doi.org/10.1002/..
 
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2

Novel ARG1 variants identified in a patient with arginase 1..:

Yokoi, Katsuyuki ; Nakajima, Yoko ; Yasui, Toshihiro...
Human Genome Variation.  8 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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3

Guide for diagnosis and treatment of hyperphenylalaninemia:

Shintaku, Haruo ; Ohura, Toshihiro ; Takayanagi, Masaki...
Pediatrics International.  63 (2021)  1 - p. 8-12 , 2021
Link: https://doi.org/10.1111/..
 
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4

Early intervention for late‐onset ornithine transcarbamylas..:

Fujisawa, Daisuke ; Mitsubuchi, Hiroshi ; Matsumoto, Shirou...
Pediatrics International.  57 (2015)  1 - p. , 2015
Link: https://doi.org/10.1111/..
 
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5

The first Japanese case of the arthrochalasia type of Ehler..:

Hatamochi, Atsushi ; Hamada, Takahiro ; Yoshino, Makoto.
Gene.  538 (2014)  1 - p. 199-203 , 2014
Link: https://doi.org/10.1016/..
 
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6

Corrigendum to "The first Japanese case of the arthrochalas..:

Hatamochi, Atsushi ; Hamada, Takahiro ; Yoshino, Makoto.
Gene.  540 (2014)  1 - p. 130 , 2014
Link: https://doi.org/10.1016/..
 
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7

MLL2 and KDM6A mutations in patients with Kabuki syndrome:

Miyake, Noriko ; Koshimizu, Eriko ; Okamoto, Nobuhiko...
American Journal of Medical Genetics Part A.  161 (2013)  9 - p. 2234-2243 , 2013
Link: https://doi.org/10.1002/..
 
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8

Fatigue and quality of life in citrin deficiency during ada..:

Okano, Yoshiyuki ; Kobayashi, Kyoko ; Ihara, Kenji...
Molecular Genetics and Metabolism.  109 (2013)  1 - p. 9-13 , 2013
Link: https://doi.org/10.1016/..
 
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9

An adult patient with mucolipidosis III alpha/beta presenti..:

Hara, Munetsugu ; Inokuchi, Takahiro ; Taniwaki, Takayuki...
Brain and Development.  35 (2013)  5 - p. 462-465 , 2013
Link: https://doi.org/10.1016/..
 
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10

Mutant α-galactosidase A with M296I does not cause elevatio..:

Mitobe, Sayuri ; Togawa, Tadayasu ; Tsukimura, Takahiro...
Molecular Genetics and Metabolism.  107 (2012)  3 - p. 623-626 , 2012
Link: https://doi.org/10.1016/..
 
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11

Cross-sectional study of bone metabolism with nutrition in ..:

Nagasaka, Hironori ; Tsukahara, Hirokazu ; Takatani, Tomozumi...
Journal of Bone and Mineral Metabolism.  29 (2011)  6 - p. 737-743 , 2011
Link: https://doi.org/10.1007/..
 
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12

Long‐term outcome and intervention of urea cycle disorders ..:

Kido, Jun ; Nakamura, Kimitoshi ; Mitsubuchi, Hiroshi...
Journal of Inherited Metabolic Disease.  35 (2011)  5 - p. 777-785 , 2011
Link: https://doi.org/10.1007/..
 
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13

Laronidase replacement therapy improves myocardial function..:

Harada, Haruhito ; Uchiwa, Hiroki ; Nakamura, Mio...
Molecular Genetics and Metabolism.  103 (2011)  3 - p. 215-219 , 2011
Link: https://doi.org/10.1016/..
 
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14

A familial case of LEOPARD syndrome associated with a high-..:

Watanabe, Yoriko ; Yano, Shoji ; Niihori, Tetsuya...
Brain and Development.  33 (2011)  7 - p. 576-579 , 2011
Link: https://doi.org/10.1016/..
 
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15

Zinc Monotherapy From Time of Diagnosis for Young Pediatric..:

Mizuochi, Tatsuki ; Kimura, Akihiko ; Shimizu, Norikazu...
Journal of Pediatric Gastroenterology and Nutrition.  53 (2011)  4 - p. 365-367 , 2011
Link: https://doi.org/10.1097/..
 
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