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Overview of symptoms and treatment for lysinuric protein intolerance

Journal of human genetics, 2019-09, Vol.64 (9), p.849-858

2019

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Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine

Biological and Pharmaceutical Bulletin, 2020/09/01, Vol.43(9), pp.1398-1406

2020

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Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

BMC neurology, 2022-01, Vol.22 (1), p.20-20, Article 20

2022

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An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase

The Tohoku Journal of Experimental Medicine, 2020, Vol.250(1), pp.5-11

2020

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Effectiveness of rotavirus vaccines against hospitalisations in Japan

BMC pediatrics, 2017-07, Vol.17 (1), p.156-156, Article 156

2017

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Elevation of Serum Acid Sphingomyelinase Activity in Children with Acute Respiratory Syncytial Virus Bronchiolitis

The Tohoku Journal of Experimental Medicine, 2017, Vol.243(4), pp.275-281

2017

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Barth Syndrome: Different Approaches to Diagnosis

The Journal of pediatrics, 2018-02, Vol.193, p.256-260

2018

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A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings

Brain & development (Tokyo. 1979), 2018-10, Vol.40 (9), p.760-767

2018

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Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

PloS one, 2016-05, Vol.11 (5), p.e0154827-e0154827

2016

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A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog–Scott syndrome

Clinical Pediatric Endocrinology, 2024, Vol.33(1), pp.39-42

2024

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Spread and predominance in Japan of novel G1P[8] double-reassortant rotavirus strains possessing a DS-1-like genotype constellation typical of G2P[4] strains

Infection, genetics and evolution, 2014-12, Vol.28, p.426-433

2014

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Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3

Human genome variation, 2022-06, Vol.9 (1), p.23-23, Article 23

2022

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Regional Variations in the Incidence of Rotavirus Hospitalization in Children Living in Defined Regions of Akita and Kyoto Prefectures, Japan

Japanese Journal of Infectious Diseases, 2017, Vol.70(2), pp.167-170

2017

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Leaflets and continual educational offerings led to increased coverage rate of newborn hearing screening in Akita

Auris, nasus, larynx, 2018-08, Vol.45 (4), p.673-679

2018

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Familial episodic limb pain in kindreds with novel Nav1.9 mutations

PloS one, 2018-12, Vol.13 (12), p.e0208516-e0208516

2018

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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

BMC neurology, 2018-08, Vol.18 (1), p.117-117, Article 117

2018

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Elevated Urinary Levels of 8-Hydroxy-2′-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome

The Tohoku Journal of Experimental Medicine, 2016, Vol.239(3), pp.231-235

2016

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A Retrospective, Hospital-Based Study to Determine the Incidence of Rotavirus Hospitalizations among Children Less than 5 Years of Age over a 10-Year Period (2001–2011) in Akita Prefecture, Japan

Japanese Journal of Infectious Diseases, 2014, Vol.67(6), pp.464-468

2014

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A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

Case reports in genetics, 2020-08, Vol.2020, p.1-5

2020

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Incidence of Intussusception as Studied from a Hospital-Based Retrospective Survey over a 10-Year Period (2001–2010) in Akita Prefecture, Japan

Japanese Journal of Infectious Diseases, 2012, Vol.65(4), pp.301-305

2012

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E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

Heliyon, 2021-06, Vol.7 (6), p.e07396-e07396, Article e07396

2021

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Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome

Endocrine Journal, 2013, Vol.60(4), pp.403-408

2013

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Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.9-13

2013

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Overview of symptoms and treatment for lysinuric protein intolerance

Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine

Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase

Effectiveness of rotavirus vaccines against hospitalisations in Japan

Elevation of Serum Acid Sphingomyelinase Activity in Children with Acute Respiratory Syncytial Virus Bronchiolitis

Barth Syndrome: Different Approaches to Diagnosis

A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog–Scott syndrome

Spread and predominance in Japan of novel G1P[8] double-reassortant rotavirus strains possessing a DS-1-like genotype constellation typical of G2P[4] strains

Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3

Regional Variations in the Incidence of Rotavirus Hospitalization in Children Living in Defined Regions of Akita and Kyoto Prefectures, Japan

Leaflets and continual educational offerings led to increased coverage rate of newborn hearing screening in Akita

Familial episodic limb pain in kindreds with novel Nav1.9 mutations

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

Elevated Urinary Levels of 8-Hydroxy-2′-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome

A Retrospective, Hospital-Based Study to Determine the Incidence of Rotavirus Hospitalizations among Children Less than 5 Years of Age over a 10-Year Period (2001–2011) in Akita Prefecture, Japan

A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

Phenotypic characteristics of pediatric inflammatory bowel disease in Japan: results from a multicenter registry

Incidence of Intussusception as Studied from a Hospital-Based Retrospective Survey over a 10-Year Period (2001–2010) in Akita Prefecture, Japan

E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome

Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

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