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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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Response to “AAT deficiency: PIMpalermo and PISiiyama, current diagnosis and future risk”

Pediatrics international, 2022-01, Vol.64 (1), p.e15306-n/a

2022

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Alpha1‐antitrypsin deficiency recognized by failure to gain weight in infancy

Pediatrics international, 2022-01, Vol.64 (1), p.e14874-n/a

2022

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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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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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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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Neonatal transient eosinophilic colitis with single bubble sign

Pediatrics international, 2018-12, Vol.60 (12), p.1092-1093

2018

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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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Biopsy‐proven acute interstitial nephritis due to fosfomycin in a child

Nephrology (Carlton, Vic.), 2018-09, Vol.23 (9), p.890-890

2018

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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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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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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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Novel mutation in the TMPRSS6 gene with iron‐refractory iron deficiency anemia

Pediatrics international, 2014-08, Vol.56 (4), p.e41-e44

2014

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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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A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia

Human genome variation, 2018-01, Vol.5 (1), p.1-3, Article 1

2018

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Response to “ AAT deficiency: PI Mpalermo and PI Siiyama, current diagnosis and future risk”

Pediatrics international, 2022-01, Vol.64 (1)

2022

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Rare diseases presenting with hemophagocytic lymphohistiocytosis

Pediatrics international, 2023-01, Vol.65 (1), p.e15516-n/a

2023

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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, 2013-04, Vol.60 (4), p.403-408

2013

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Overview of symptoms and treatment for lysinuric protein intolerance

Response to “AAT deficiency: PIMpalermo and PISiiyama, current diagnosis and future risk”

Alpha1‐antitrypsin deficiency recognized by failure to gain weight in infancy

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

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

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

Neonatal transient eosinophilic colitis with single bubble sign

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

Biopsy‐proven acute interstitial nephritis due to fosfomycin in a child

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

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

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

Novel mutation in the TMPRSS6 gene with iron‐refractory iron deficiency anemia

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

A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia

Response to “ AAT deficiency: PI Mpalermo and PI Siiyama, current diagnosis and future risk”

Rare diseases presenting with hemophagocytic lymphohistiocytosis

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

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