Detalhe da pesquisa
1.
Prognosis of pediatric ulcerative colitis after infliximab failure: A multicenter registry-based cohort study.
J Gastroenterol Hepatol
; 39(2): 312-318, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058020
2.
Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.
J Hum Genet
; 68(11): 751-757, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37423943
3.
Rare diseases presenting with hemophagocytic lymphohistiocytosis.
Pediatr Int
; 65(1): e15516, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843347
4.
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 Neurol
; 22(1): 20, 2022 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012485
5.
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.
Biol Pharm Bull
; 43(9): 1398-1406, 2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581190
6.
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
Tohoku J Exp Med
; 250(1): 5-11, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31941852
7.
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
J Pediatr
; 214: 151-157.e6, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477378
8.
Overview of symptoms and treatment for lysinuric protein intolerance.
J Hum Genet
; 64(9): 849-858, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213652
9.
Barth Syndrome: Different Approaches to Diagnosis.
J Pediatr
; 193: 256-260, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29249525
10.
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
BMC Neurol
; 18(1): 117, 2018 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30119649
11.
Detection in Japan of an equine-like G3P[8] reassortant rotavirus A strain that is highly homologous to European strains across all genome segments.
Arch Virol
; 163(3): 791-794, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29196818
12.
A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant.
Pediatr Int
; 65(1): e15638, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795857
13.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Mol Genet Metab
; 122(3): 67-75, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801073
14.
Effectiveness of rotavirus vaccines against hospitalisations in Japan.
BMC Pediatr
; 17(1): 156, 2017 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28693503
15.
Response to "AAT deficiency: PI*Mpalermo and PI*Siiyama, current diagnosis and future risk".
Pediatr Int
; 64(1): e15306, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36114160
16.
Alpha1-antitrypsin deficiency recognized by failure to gain weight in infancy.
Pediatr Int
; 64(1): e14874, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35072963
17.
Elevation of Serum Acid Sphingomyelinase Activity in Children with Acute Respiratory Syncytial Virus Bronchiolitis.
Tohoku J Exp Med
; 243(4): 275-281, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29238000
18.
Paroxysmal limb intolerable pain (infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome).
Nihon Rinsho
; 75(4): 641-651, 2017 04.
Artigo
em Japonês
| MEDLINE | ID: mdl-30549873
19.
Clinical and genetic features of lysinuric protein intolerance in Japan.
Pediatr Int
; 58(10): 979-983, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865117
20.
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
Tohoku J Exp Med
; 239(3): 231-5, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27396511