Hyperoxaluria type I: Therapeutic effects of pyridoxine hydrochloride and inheritance patterns of the disease in a family.

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概要

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• The cases of two patients with primary hyperoxaluria type I, aged five years and two years, born to consanguineous parents are described. These patients have been treated with oral pyridoxine hydrochloride at a dose of 200mg/24 hr without evidence that this regimen has decreased urinary oxalate excretion. Studies of oxalate excretion in the family members yielded results consistent with either autosomal dominant inheritance, with variable expressivity, or with autosomal recessive character.

• 久留米大学医学部 The Kurume Medical Journal 編集部の論文

著者

• Yoshino Makoto

  Department Of Advanced Materials Science & Engineering Faculty Of Engineering Yamaguchi Universi

• Ito Yuhei

  Department Of Pediatrics And Child Health Kurume University Medical Center

• Nakao Mitsuyoshi

  Department Of Regeneration Medicine Institute Of Molecular Embryology And Genetics Graduate School O

• Shimada Akihiko

  Department Of Surgery Keiyu Hospital

• Nishiyori Atsushi

  Department Of Pediatrics And Child Health Kurume University School Of Medicine

• Matsumoto Toru

  Department Of Endodontics School Of Dentistry Aichi Gakuin University

• Yano Shoji

  Department Of Pediatrics And Child Health Kurume University School Of Medicine

• YAMASHITA FUMIO

  Department of Child Health, Kurume University School of Medicine

• INOKUCHI TAKAHIRO

  Department of Medical Biochemistry Kurume University School of Medicine

• INOKUCHI TAKAHIRO

  Departments of Biomedical Mass Spectrometry Laboratory, Kurume University School of Medicine

• MATSUMOTO TORU

  Departments of Pediatrics, Kurume University School of Medicine

• YOSHINO MAKOTO

  Departments of Pediatrics, Kurume University School of Medicine

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