A Tanoue|F Endo|I Matsuda - JoVE Visualize

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Pediatric Neurology|March 1, 1986

Carnitine prevents Reye-like syndrome in atypical carnitine deficiencyT Matsubasa, Y Ohtani, T Miike, et al.

Kidney International|January 20, 1999

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuriaH Nakazato, J Yoshimuta, S Karashima, et al.

Biochemistry|February 6, 1990

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 processingY Nobukuni, H Mitsubuchi, F Endo, et al.

Biochimica Et Biophysica Acta|February 22, 1994

Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine diseaseY Hayashida, H Mitsubuchi, Y Indo, et al.

The Journal of Clinical Investigation|May 1, 1991

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the diseaseY Nobukuni, H Mitsubuchi, I Akaboshi, et al.

Human Genetics|September 12, 2000

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) familiesY Miura, S Mardy, Y Awaya, et al.

Biochemical and Biophysical Research Communications|October 30, 1990

A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patientsI Matsuda, Y Nobukuni, H Mitsubuchi, et al.

Journal of Pediatric Gastroenterology and Nutrition|January 1, 1990

Carnitine status and blood ammonium levels in low birth weight infantsT Nakamura, S Nakamura, Y Kondo, et al.

American Journal of Medical Genetics|August 23, 1996

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activityR Hoshide, T Matsuura, Y Sagara, et al.

European Journal of Pediatrics|November 1, 1988

Plasma concentrations of vitamin K1 and PIVKA-II in bottle-fed and breast-fed infants with and without vitamin K prophylaxis at birthJ Widdershoven, W Lambert, K Motohara, et al.

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Showing results (51-60 of 494) with videos related to

Sort By:

Pageof 50

Pediatric Neurology|March 1, 1986

Carnitine prevents Reye-like syndrome in atypical carnitine deficiencyT Matsubasa, Y Ohtani, T Miike, et al.

Kidney International|January 20, 1999

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuriaH Nakazato, J Yoshimuta, S Karashima, et al.

Biochemistry|February 6, 1990

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 processingY Nobukuni, H Mitsubuchi, F Endo, et al.

Biochimica Et Biophysica Acta|February 22, 1994

Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine diseaseY Hayashida, H Mitsubuchi, Y Indo, et al.

The Journal of Clinical Investigation|May 1, 1991

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the diseaseY Nobukuni, H Mitsubuchi, I Akaboshi, et al.

Human Genetics|September 12, 2000

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) familiesY Miura, S Mardy, Y Awaya, et al.

Biochemical and Biophysical Research Communications|October 30, 1990

A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patientsI Matsuda, Y Nobukuni, H Mitsubuchi, et al.

Journal of Pediatric Gastroenterology and Nutrition|January 1, 1990

Carnitine status and blood ammonium levels in low birth weight infantsT Nakamura, S Nakamura, Y Kondo, et al.

American Journal of Medical Genetics|August 23, 1996

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activityR Hoshide, T Matsuura, Y Sagara, et al.

European Journal of Pediatrics|November 1, 1988

Plasma concentrations of vitamin K1 and PIVKA-II in bottle-fed and breast-fed infants with and without vitamin K prophylaxis at birthJ Widdershoven, W Lambert, K Motohara, et al.

Pageof 50