Search Results - "Numakura C"

Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.

Authors: Kurihara, S. Adachi, Y. Imai, C. et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Oct2004, Vol. 75 Issue 10, p1492-1494. 3p.

De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.

Authors: Ikeda M Numakura C Nishimura G et al.

Source: Journal of human genetics [J Hum Genet] 2026 Jun; Vol. 71 (6), pp. 383-390. Date of Electronic Publication: 2026 Jan 13.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.

Authors: Kanno M Sato H Uemura Y et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun; Vol. 200 (6), pp. 1384-1387. Date of Electronic Publication: 2026 Jan 27.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Authors: Kido J Nakashima H Häberle J et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109912. Date of Electronic Publication: 2026 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Colorectal cancer in a patient with glutaric aciduria type 1.

Authors: Hayasaka K Numakura C Sato H et al.

Source: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2025 Jan-Dec; Vol. 67 (1), pp. e15853.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE; In Process

Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.

Authors: Konomura K Numakura C Nakamura-Utsunomiya A et al.

Source: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2024 Dec; Vol. 33 (12), pp. 3323-3333. Date of Electronic Publication: 2024 Sep 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Netherlands Country of Publication: Netherlands NLM ID: 9210257 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2649 (Electronic) Linking ISSN: 09629343 NLM ISO Abbreviation: Qual Life Res Subsets: MEDLINE

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Authors: Kido J Häberle J Tanaka T et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1134-1143. Date of Electronic Publication: 2023 Sep 12.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.

Authors: Hosokawa M Ichihashi Y Sato Y et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jul 12; Vol. 109 (8), pp. e1602-e1607.

Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

Authors: Kido J Häberle J Sugawara K et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109221. Date of Electronic Publication: 2025 Aug 14.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.

Authors: Shibata N Numakura C Hamajima T et al.

Source: Endocrine journal [Endocr J] 2024 May 23; Vol. 71 (5), pp. 471-480. Date of Electronic Publication: 2024 Mar 08.

Publication Type: Journal Article

Journal Info: Publisher: Japan Endocrine Society Country of Publication: Japan NLM ID: 9313485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1348-4540 (Electronic) Linking ISSN: 09188959 NLM ISO Abbreviation: Endocr J Subsets: MEDLINE

Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia.

Authors: Suzuki-Ajihara S Musha I Arao M et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2025 Aug 07; Vol. 11 (3). Date of Electronic Publication: 2025 Aug 07.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Management strategy for congenital hyperinsulinism with atrial septal defect and diazoxide-induced pulmonary hypertension.

Authors: Koizumi S Musha I Toda K et al.

Source: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Clin Pediatr Endocrinol] 2025 Jul; Vol. 34 (3), pp. 188-192. Date of Electronic Publication: 2025 Apr 18.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Jeff Corporation Co Country of Publication: Japan NLM ID: 9433330 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0918-5739 (Print) Linking ISSN: 09185739 NLM ISO Abbreviation: Clin Pediatr Endocrinol Subsets: PubMed not MEDLINE

Identification of causative gene variants for patients with known monogenic diabetes using a targeted next-generation sequencing panel in a single-center study.

Authors: Takase K Susa S Sato H et al.

Source: Diabetology international [Diabetol Int] 2023 Nov 15; Vol. 15 (2), pp. 203-211. Date of Electronic Publication: 2023 Nov 15 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101553224 Publication Model: eCollection Cited Medium: Print ISSN: 2190-1678 (Print) Linking ISSN: 21901678 NLM ISO Abbreviation: Diabetol Int Subsets: PubMed not MEDLINE

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

Authors: Kido J Häberle J Sugawara K et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 May; Vol. 45 (3), pp. 431-444. Date of Electronic Publication: 2022 Feb 25.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Authors: Mikami-Saito Y Wada Y Arai-Ichinoi N et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Aug; Vol. 26 (8), pp. 101165. Date of Electronic Publication: 2024 May 16.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour.

Authors: Nagasaki K Takase K Numakura C et al.

Source: Human reproduction (Oxford, England) [Hum Reprod] 2020 Nov 01; Vol. 35 (11), pp. 2609-2612.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney-urinary tract in pediatric Turner syndrome.

Authors: Izumita Y Nishigaki S Satoh M et al.

Source: Congenital anomalies [Congenit Anom (Kyoto)] 2020 Nov; Vol. 60 (6), pp. 175-179. Date of Electronic Publication: 2020 Aug 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.

Authors: Yatsuga S Amano N Nakamura-Utsunomiya A et al.

Source: Endocrine journal [Endocr J] 2020 Aug 28; Vol. 67 (8), pp. 853-857. Date of Electronic Publication: 2020 Apr 21.

Publication Type: Journal Article

Journal Info: Publisher: Japan Endocrine Society Country of Publication: Japan NLM ID: 9313485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1348-4540 (Electronic) Linking ISSN: 09188959 NLM ISO Abbreviation: Endocr J Subsets: MEDLINE

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.

Authors: Suzuki-Ajihara S Saito-Tsuruoka M Harashima H et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Mar 17; Vol. 35, pp. 100966. Date of Electronic Publication: 2023 Mar 17 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Growth impairment in individuals with citrin deficiency.

Authors: Numakura C Tamiya G Ueki M et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 501-508. Date of Electronic Publication: 2019 Feb 04.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE