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1.
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Genet Med
; : 101165, 2024 May 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38762772
2.
Resurgence of human metapneumovirus infection and influenza after three seasons of inactivity in the post-COVID-19 era in Hokkaido, Japan, 2022-2023.
J Med Virol
; 95(12): e29299, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38081792
3.
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
J Inherit Metab Dis
; 2023 Sep 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37681292
4.
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Nephrol Dial Transplant
; 37(2): 262-270, 2022 01 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34586410
5.
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
J Inherit Metab Dis
; 45(3): 431-444, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35142380
6.
Surveillance in hospitalized children with infectious diseases in Japan: Pre- and post-coronavirus disease 2019.
J Infect Chemother
; 27(11): 1639-1647, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34389224
7.
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.
Mol Genet Metab
; 110(4): 460-4, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24231718
8.
Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.
Mol Genet Metab
; 108(1): 25-9, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23151386
9.
Changing Patterns of Infectious Diseases Among Hospitalized Children in Hokkaido, Japan, in the Post-COVID-19 Era, July 2019 to June 2022.
Pediatr Infect Dis J
; 42(9): 766-773, 2023 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37257096
10.
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.
Mol Genet Metab
; 107(3): 513-20, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23022072
11.
Newborn screening for Pompe disease in Japan.
Mol Genet Metab
; 104(4): 560-5, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21963784
12.
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
J Hum Genet
; 56(10): 707-15, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21850009
13.
A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
Mol Genet Metab
; 100(4): 339-44, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20488739
14.
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).
Mol Genet Metab
; 99(1): 18-25, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19773189
15.
Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.
Int J Neonatal Screen
; 4(1): 5, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33072931
16.
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Int J Mol Med
; 35(6): 1554-60, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25872961
17.
[Abnormalities in the development of adrenal gland].
Nihon Rinsho
; Suppl 1: 756-9, 2006 May 28.
Artículo
en Japonés
| MEDLINE | ID: mdl-16776268
18.
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping.
J Dermatol
; 41(11): 1019-21, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25296693
19.
Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.
Tohoku J Exp Med
; 198(2): 89-97, 2002 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-12512993
20.
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Tohoku J Exp Med
; 198(2): 119-24, 2002 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-12512996