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1

Molecular basis of intermittent maple syrup urine disease: novel mutations in theE2gene of the branched-chain α-keto acid dehydrogenase complex

Motoko Tsuruta, Hiroshi Mitsubuchi, S. Mardy, Yuichi Miura, Yumi Hayashida, Akihiko Kinugasa, Takateru Ishitsu, Ichiro Matsuda, Y. Indo

Journal:

Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 632 KB

english, 1998

2

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Uehara, Daniela Tiaki, Hayashi, Shin, Okamoto, Nobuhiko, Mizuno, Seiji, Chinen, Yasutsugu, Kosaki, Rika, Kosho, Tomoki, Kurosawa, Kenji, Matsumoto, Hiroshi, Mitsubuchi, Hiroshi, Numabe, Hironao, Saito

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

3

Prenatal diagnosis of Gaucher disease using next-generation sequencing

Yoshida, Shinichiro, Kido, Jun, Matsumoto, Shirou, Momosaki, Ken, Mitsubuchi, Hiroshi, Shimazu, Tomoyuki, Sugawara, Keishin, Endo, Fumio, Nakamura, Kimitoshi

Journal:

Pediatrics International

Year:

2016

Language:

english

File:

PDF, 163 KB

english, 2016

4

Early-onset neonatal hyperkalemia associated with maternal hypermagnesemia: a case report

Tanaka, Kenichi, Mori, Hiroko, Sakamoto, Rieko, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Iwai, Masanori

Journal:

Year:

2018

Language:

english

File:

PDF, 420 KB

english, 2018

5

Urea cycle disorders—update

Matsumoto, Shirou, Häberle, Johannes, Kido, Jun, Mitsubuchi, Hiroshi, Endo, Fumio, Nakamura, Kimitoshi

Journal:

Journal of Human Genetics

Year:

2019

File:

PDF, 1.20 MB

2019

6

Monitoring method for pre- and post-liver transplantation in patients with primary hyperoxaluria type I

Yoshito Inoue, Hiroaki Masuyama, Hiromichi Ikawa, Hiroshi Mitsubuchi, Tomiko Kuhara

Journal:

Journal of Chromatography B

Year:

2003

Language:

english

File:

PDF, 206 KB

english, 2003

7

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

Tohru Yorifuji, Masahiko Kawai, Junko Muroi, Mitsukazu Mamada, Keiji Kurokawa, Yosuke Shigematsu, Satoko Hirano, Nobuo Sakura, Ichiro Yoshida, Tomiko Kuhara, Fumio Endo, Hiroshi Mitsubuchi, Tatsutoshi

Journal:

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

8

Complete absence of bile and pancreatic ducts in a newborn: a new entity of congenital anomaly in hepato-pancreatic development

Kimitoshi Nakamura, Hiroshi Mitsubuchi, Haruhiko Miyayama, Koichi Yatsunami, Junji Ishimatsu, Tetsuro Yamamoto, Fumio Endo

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 2.07 MB

english, 2003

9

Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV

Tatsuki Mizuochi, Akihiko Kimura, Hiroshi Nishiura, Yukihiro Inomata, Hideaki Okajima, Hideo Sugie, Hiroshi Mitsubuchi, Minoru Yagi, Masayoshi Kage

Journal:

Pediatrics International

Year:

2011

Language:

english

File:

PDF, 287 KB

english, 2011

10

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Indo, Yasuhiro, Tsuruta, Motoko, Hayashida, Yumi, Karim, Mohammad Azharul, Ohta, Kohji, Kawano, Tomoyasu, Mitsubuchi, Hiroshi, Tonoki, Hidefumi, Awaya, Yutaka, Matsuda, Ichiro

Journal:

Nature Genetics

Year:

1996

File:

PDF, 487 KB

1996

11

Acute myeloblastic leukemia (ANLL-M2) with t(8;21)(q22;q22) variant expressing lymphoid but not myeloid surface antigens with a high number of G-CSF receptors

Hiroyuki Tsuchiya, Soheir S. Elsonbaty, Kohji Nagano, Masahiko Watanabe, Masahiro Migita, Hiroshi Mitsubuchi, Yasuhiko Kaneko, Ichiro Matsuda

Journal:

Leukemia Research

Year:

1993

Language:

english

File:

PDF, 245 KB

english, 1993

12

Complete primary structure of the transacylase (E2b) subunit of the human branched chain α-keto acid dehydrogenase complex

Yoshitaka Nobukuni, Hiroshi Mitsubuchi, Fumio Endo, Ichiro Matsuda

Journal:

Biochemical and Biophysical Research Communications

Year:

1989

Language:

english

File:

PDF, 439 KB

english, 1989

13

A T-to-A substitution in the E1α subunit gene of the branched-chain α-ketoacid dehydrogenase complex in two cell lines derived from menonite maple syrup urine disease patients

Ichiro Matsuda, Yoshitaka Nobukuni, Hiroshi Mitsubuchi, Yasuhiro Indo, Fumio Endo, Junichiro Asaka, Atsuko Harada

Journal:

Biochemical and Biophysical Research Communications

Year:

1990

Language:

english

File:

PDF, 351 KB

english, 1990

14

Mutations in the PIT-1 gene in children with combined pituitary hormone deficiency

Kohji Ohta, Yoshitaka Nobukuni, Hiroshi Mitsubuchi, Shigehiro Fujimoto, Nobutake Matsuo, Hiroshi Inagaki, Fumio Endo, Ichiro Matsuda

Journal:

Biochemical and Biophysical Research Communications

Year:

1992

Language:

english

File:

PDF, 352 KB

english, 1992

15

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

Kido, Jun, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Ohura, Toshihiro, Takayanagi, Masaki, Matsuo, Masafumi, Yoshino, Makoto, Shigematsu, Yosuke, Yorifuji, Tohru, Kasahara, Mureo, Horikawa, Reiko, End

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

16

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

Kido, Jun, Nakamura, Kimitoshi, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Ohura, Toshihiro, Shigematsu, Yosuke, Yorifuji, Tohru, Kasahara, Mureo, Horikawa, Reiko, Endo, Fumio

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 855 KB

english, 2013

17

Clinical features and management of organic acidemias in Japan

Fujisawa, Daisuke, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Ohura, Toshihiro, Shigematsu, Yosuke, Yorifuji, Tohru, Kasahara, Mureo, Horikawa, Reiko, Endo, Fumio

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 511 KB

english, 2013

18

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, Masahiro, Mizumoto, Shuji, Miyake, Noriko, Kogawa, Ryo, Iida, Aritoshi, Ito, Hironori, Kitoh, Hiroshi, Hirayama, Aya, Mitsubuchi, Hiroshi, Miyazaki, Osamu, Kosaki, Rika, Horikawa, Reiko, Lai

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 405 KB

english, 2013

19

Newborn screening for Pompe disease with dried blood spots in a Japanese region: a pilot study

Momosaki, Ken, Matsumoto, Shirou, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Okumiya, Toshika, Endo, Fumio

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

20

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

Nobukini, Yoshitaka, Mitsubuchi, Hiroshi, Hayashida, Yumi, Ohta, Kohji, Indo, Yasuhiro, Ichiba, Yozo, Endo, Fumio, Matsuda, Ichiro

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1993

Language:

english

File:

PDF, 612 KB

english, 1993

21

Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1

Ohta, Kohji, Nobukuni, Yoshitaka, Mitsubuchi, Hiroshi, Ohta, Tohru, Tohma, Takaya, Jinno, Yoshihiro, Endo, Fumio, Matsuda, Ichiro

Journal:

Year:

1992

Language:

english

File:

PDF, 247 KB

english, 1992

22

Isolation and characterization of a complementary DNA clone coding for the E1.beta. subunit of the bovine branched-chain .alpha.-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing

Nobukuni, Yoshitaka, Mitsubuchi, Hiroshi, Endo, Fumio, Asaka, Junichiro, Oyama, Rieko, Titani, Koiti, Matsuda, Ichiro

Journal:

Year:

1990

Language:

english

File:

PDF, 1.59 MB

english, 1990

23

Biochemical and clinical features of hereditary hyperprolinemia

Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Matsumoto, Shirou, Endo, Fumio

Journal:

Pediatrics International

Year:

2014

Language:

english

File:

PDF, 188 KB

english, 2014

24

Diagnosis and treatment of urea cycle disorder in Japan

Nakamura, Kimitoshi, Kido, Jun, Mitsubuchi, Hiroshi, Endo, Fumio

Journal:

Pediatrics International

Year:

2014

Language:

english

File:

PDF, 504 KB

english, 2014

25

VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection

Yamamoto, Akiko, Nakamura, Kimitoshi, Matsumoto, Shirou, Iwai, Masanori, Shigematsu, Yosuke, Tajima, Go, Tsumura, Miyuki, Okada, Satoshi, Mitsubuchi, Hiroshi, Endo, Fumio

Journal:

Pediatrics International

Year:

2013

Language:

english

File:

PDF, 274 KB

english, 2013

26

Diagnosis and treatment of hereditary tyrosinemia in Japan

Nakamura, Kimitoshi, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Endo, Fumio

Journal:

Pediatrics International

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

27

Re-evaluation of the indications for liver transplantation in Wilson's disease based on the outcomes of patients referred to a transplant center

Ohya, Yuki, Okajima, Hideaki, Honda, Masaki, Hayashida, Shintaro, Suda, Hiroko, Matsumoto, Shiro, Lee, Kwang-Jong, Yamamoto, Hidekazu, Takeichi, Takayuki, Mitsubuchi, Hiroshi, Asonuma, Katsuhiro, Endo

Journal:

Pediatric Transplantation

Year:

2013

Language:

english

File:

PDF, 78 KB

english, 2013

28

Newborn screening of Pompe disease in Japan: 2years experience

Momosaki, Ken, Yoshida, Shinichiro, Matsumoto, Shirou, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Endo, Fumio

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 378 KB

english, 2015

29

Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease

Kadohisa, Masashi, Matsumoto, Shirou, Sawada, Hirotake, Honda, Masaki, Murokawa, Takahiro, Hayashida, Shintaro, Ohya, Yuki, Lee, Kwang-Jong, Yamamoto, Hidekazu, Mitsubuchi, Hiroshi, Endo, Fumio, Inoma

Journal:

Pediatric Transplantation

Year:

2015

Language:

english

File:

PDF, 165 KB

english, 2015

30

Early intervention for late-onset ornithine transcarbamylase deficiency

Fujisawa, Daisuke, Mitsubuchi, Hiroshi, Matsumoto, Shirou, Iwai, Masanori, Nakamura, Kimitoshi, Hoshide, Ryuji, Harada, Nawomi, Yoshino, Makoto, Endo, Fumio

Journal:

Pediatrics International

Year:

2015

Language:

english

File:

PDF, 231 KB

english, 2015

31

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

Kohrogi, Kensaku, Imagawa, Eri, Muto, Yuichiro, Hirai, Katsuki, Migita, Masahiro, Mitsubuchi, Hiroshi, Miyake, Noriko, Matsumoto, Naomichi, Nakamura, Kimitoshi, Endo, Fumio

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 756 KB

english, 2015

32

Clinical manifestations and growth of patients with urea cycle disorders in Japan

Nakamura, Kimitoshi, Kido, Jun, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Endo, Fumio

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 260 KB

english, 2016

33

Oral Bile Acid Treatment in Two Japanese Patients With Zellweger Syndrome

Maeda, Kohji, Kimura, Akihiko, Yamato, Yasuhiko, Nittono, Hiroshi, Takei, Hajime, Sato, Tetsuji, Mitsubuchi, Hiroshi, Murai, Tsuyoshi, Kurosawa, Takao

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2002

Language:

english

File:

PDF, 227 KB

english, 2002

34

Find-GEMS (Gaucher patients in epilepsy and myoclonus): screening for Gaucher disease with enzyme assay among patients with early-onset seizures

Nakamura, Kimitoshi, Momosaki, Ken, Yoshida, Shin-ichiro, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Fumio,

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 46 KB

english, 2016

35

Relieving pain and distress during venipuncture: Pilot study of the Japan Environment and Children's Study (JECS)

Yamamoto-Hanada, Kiwako, Futamura, Masaki, Kitazawa, Hiroshi, Ohya, Yukihiro, Kobayashi, Fumio, Kusuda, Takeshi, Sanefuji, Masafumi, Oda, Masako, Mitsubuchi, Hiroshi, Shibata, Eiji, Tsuji, Mayumi, Kay

Journal:

Pediatrics International

Year:

2015

Language:

english

File:

PDF, 231 KB

english, 2015

36

Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation

Kido, Jun, Matsumoto, Shirou, Momosaki, Ken, Sakamoto, Rieko, Mitsubuchi, Hiroshi, Inomata, Yukihiro, Endo, Fumio, Nakamura, Kimitoshi

Journal:

Hepatology Research

Year:

2016

Language:

english

File:

PDF, 129 KB

english, 2016

37

Amelioration of Brain Damage by Glycine in Neonatal Rat Brain Following Hypoxia−Ischemia

Mori, Hiroko, Momosaki, Ken, Kido, Jun, Naramura, Tetsuo, Tanaka, Kenichi, Matsumoto, Shirou, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Endo, Fumio, Iwai, Masanori

Journal:

Pediatrics International

Year:

2016

Language:

english

File:

PDF, 942 KB

english, 2016

38

Citrulline Administration for Urea Cycle Disorders in Japan

Tanaka, Kenichi, Nakamura, Kimitoshi, Matsumoto, Shirou, Kido, Jun, Mitsubuchi, Hiroshi, Ohura, Toshihiro, Endo, Fumio

Journal:

Pediatrics International

Year:

2016

Language:

english

File:

PDF, 123 KB

english, 2016

39

Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant

Sakamoto, Rieko, Nakamura, Kimitoshi, Kido, Jun, Matsumoto, Shiro, Mitsubuchi, Hiroshi, Inomata, Yukihiro, Endo, Fumio

Journal:

Pediatric Transplantation

Year:

2016

Language:

english

File:

PDF, 334 KB

english, 2016

40

Pulmonary artery hypertension in methylmalonic acidemia

Kido, Jun, Mitsubuchi, Hiroshi, Sakanashi, Mina, Matsubara, Junichi, Matsumoto, Shirou, Sakamoto, Rieko, Endo, Fumio, Nakamura, Kimitoshi

Journal:

Hemodialysis International

Year:

2016

Language:

english

File:

PDF, 257 KB

english, 2016

41

Effect of Serum Magnesium Concentration on Renal Handling of Phosphate in a Patient with Primary Hypomagnesemia.

NISHIYAMA, SOROKU, MITSUBUCHI, HIROSHI, IKUTA, MASAYUKI, OHTA, TAKAO, MATSUDA, ICHIRO

Journal:

Endocrinologia Japonica

Year:

1988

Language:

english

File:

PDF, 551 KB

english, 1988

42

Genetic and Environmental Risk Factors, Sleeping Environment, for Allergic Diseases in Infant: Analysis of a Data Subset from the South Kyushu and Okinawa Study Area of Japan Environment and Children’s Study

MIYAZAKI, Wataru, LU, Xi, ODA, Masako, KURODA, Yoshiki, AOKI, Kazuo, MITSUBUCHI, Hiroshi, OHBA, Takashi, KATOH, Takahiko

Year:

2016

Language:

english

File:

PDF, 619 KB

english, 2016

43

Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia

Sakamoto, Osamu, Arai-Ichinoi, Natsuko, Mitsubuchi, Hiroshi, Chinen, Yasutsugu, Haruna, Hidenori, Maruyama, Hidehiko, Sugawara, Hidenori, Kure, Shigeo

Journal:

The Tohoku Journal of Experimental Medicine

Year:

2015

Language:

english

File:

PDF, 888 KB

english, 2015

44

Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders

Kido, Jun, Matsumoto, Shirou, Momosaki, Ken, Sakamoto, Rieko, Mitsubuchi, Hiroshi, Endo, Fumio, Nakamura, Kimitoshi

Journal:

Pediatric Transplantation

Year:

2017

Language:

english

File:

PDF, 319 KB

english, 2017

45

Medically dependent severe motor and intellectual disabilities: Time study of medical care

Matsubasa, Tadashi, Mitsubuchi, Hiroshi, Kimura, Akihiko, Shinohara, Makoto, Endo, Fumio

Journal:

Pediatrics International

Year:

2017

Language:

english

File:

PDF, 263 KB

english, 2017

46

Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

Yoshida, Takanobu, Kido, Jun, Mitsubuchi, Hiroshi, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi

Journal:

Human Genome Variation

Year:

2017

Language:

english

File:

PDF, 902 KB

english, 2017

47

Impact of the 2016 Kumamoto Earthquake on a female patient with ornithine transcarbamoylase deficiency

Kido, Jun, Yoshida, Takanobu, Mitsubuchi, Hiroshi, Matsumoto, Shirou, Nakamura, Kimitoshi

Journal:

Pediatrics International

Year:

2017

Language:

english

File:

PDF, 274 KB

english, 2017

48

Inborn Errors of Proline Metabolism

Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Matsumoto, Shiro, Endo, Fumio

Journal:

Journal of Nutrition

Year:

2008

Language:

english

File:

PDF, 580 KB

english, 2008

49

Markers Associated with Inborn Errors of Metabolism of Branched-Chain Amino Acids and Their Relevance to Upper Levels of Intake in Healthy People: An Implication from Clinical and Molecular Investigations on Maple Syrup Urine Disease

Mitsubuchi, Hiroshi, Owada, Misao, Endo, Fumio

Journal:

Journal of Nutrition

Year:

2005

Language:

english

File:

PDF, 101 KB

english, 2005

50

Liposteroid and methylprednisolone combination therapy for a case of idiopathic lung hemosiderosis

Sakamoto, Rieko, Matsumoto, Shiro, Mitsubuchi, Hiroshi, Nakamura, Kimitoshi

Journal:

Respiratory Medicine Case Reports

Year:

2018

Language:

english

File:

PDF, 665 KB

english, 2018

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