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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.
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
J Inherit Metab Dis
; 46(4): 618-633, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37114839
3.
Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ.
J Allergy Clin Immunol
; 149(1): 252-261.e6, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34176646
4.
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
Pediatr Res
; 92(5): 1391-1399, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35136200
5.
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
J Clin Immunol
; 41(5): 975-986, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33558980
6.
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
Int Immunol
; 32(10): 663-671, 2020 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32603428
7.
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
Int J Mol Sci
; 21(3)2020 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32024277
8.
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Clin Exp Immunol
; 212(2): 96-106, 2023 04 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36420581
9.
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
J Allergy Clin Immunol
; 140(1): 232-241, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28011069
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28801073
11.
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.
Pediatr Transplant
; 21(5)2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28612395
12.
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Mol Genet Metab
; 119(4): 322-328, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27856190
13.
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Mol Genet Metab
; 118(1): 9-14, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26947917
14.
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Int J Neonatal Screen
; 10(1)2024 Feb 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38390979
15.
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.
Haematologica
; 98(10): 1641-9, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23585529
16.
Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene.
Endocr J
; 60(1): 107-12, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-22972224
17.
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Int J Neonatal Screen
; 9(4)2023 Oct 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37987475
18.
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
Patient Prefer Adherence
; 17: 1885-1894, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37545653
19.
A classic variant of Fabry disease in a family with the M296I late-onset variant.
CEN Case Rep
; 10(1): 106-110, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32902816
20.
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
Int J Neonatal Screen
; 7(3)2021 Jun 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34203287