List of works - Kiyoshi Hayasaka

A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1 ⬇️

scientific article published on 01 February 2011

Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding ⬇️

scientific article published on September 27, 2012

Brainstem lesion in Aicardi-Goutières syndrome ⬇️

scientific article published on August 1, 1998

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene ⬇️

scientific article published on September 1, 1993

Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat ⬇️

scientific article published on 01 January 1998

De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118 ⬇️

scientific article published on 01 January 1998

Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia ⬇️

scientific article published on 01 February 1981

Expression of Po protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III ⬇️

scientific article published on 01 June 1994

Growth impairment in individuals with citrin deficiency

scientific article published on 04 February 2019

Histopathologic Changes in the Infundibular Septum After Balloon Pulmonary Valvuloplasty in Tetralogy of Fallot ⬇️

scientific article published on 01 March 1998

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome ⬇️

scientific article published on March 22, 2012

Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin ⬇️

scientific article published on November 27, 1991

Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin ⬇️

scientific article published on October 31, 1991

Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1a) to band 17p11.2 by direct r-banding fluoreschenceIn situ hybridization ⬇️

scientific article published on 01 December 1992

Management of Functional Pulmonary Atresia with Isoproterenol in a Neonate with Ebstein's Anomaly ⬇️

scientific article published on 01 April 1997

Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia

scientific article published on 12 April 2018

Metabolic basis and treatment of citrin deficiency

scientific article published on 01 August 2020

Molecular analysis of congenital central hypoventilation syndrome ⬇️

scientific article (publication date: December 2003)

Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan ⬇️

scientific article published on February 17, 2011

Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)] ⬇️

scientific article published on February 26, 1998

Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1 ⬇️

scientific article published on August 16, 1993

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B ⬇️

scientific article published on September 1, 1993

Neonatal Hyperbilirubinemia in Japanese Neonates: Analysis of the Heme Oxygenase-1 Gene and Fetal Hemoglobin Composition in Cord Blood ⬇️

scientific article published on 07 May 2003

Nonketotic Hyperglycinemia: Two Patients with Primary Defects of P-Protein and T-Protein, Respectively, in the Glycine Cleavage System ⬇️

scientific article published on December 1, 1983

Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1b ⬇️

scientific article published on 01 August 1997

Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease ⬇️

scientific article published on 01 March 1998

Polymorphisms of Heme Oxygenase-1 and Bilirubin UDP-Glucuronosyltransferase Genes are not Associated with Kawasaki Disease Susceptibility ⬇️

scientific article published on 01 July 2003

Pressure Palsy as the Initial Presentation in a Case of Late-onset Charcot-Marie-Tooth Disease Type 1A ⬇️

scientific article published on 01 July 1997

Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1 ⬇️

scientific article published on June 15, 2003

Severe Bleeding Tendency in a Patient With Bernard-Soulier Syndrome Associated With a Homozygous Single Base Pair Deletion in the Gene Coding for the Human Platelet Glycoprotein Ibα ⬇️

scientific article published on May 1, 1998

Slowly progressive sleep apnea in late‐onset central hypoventilation syndrome ⬇️

scientific article published on April 1, 2012

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type ⬇️

scientific article published on 01 April 1998

Suppression of Calphobindin I (CPB I) Production in Carcinoma of Uterine Cervix and Endometrium ⬇️

scientific article published on 01 September 1995

Transient 5-oxoprolinuria in a very low-birthweight infant

scientific article published on 01 January 1992

List of works by Kiyoshi Hayasaka