نتائج البحث - "SMPD1 gene"

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دورية أكاديمية

SMPD1 gene variants in patients with β-Thalassemia major

المؤلفون: Dursun, Fadime Ersoy^{Aff1, IDs1103302308275x_cor1}, Özen, Filiz

المصدر: Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. 50(4):3355-3363

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2

دورية أكاديمية

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

المؤلفون: Zhe-wen Zhou, Shou-hao Wang, Cheng-an Xu, Wen-hao Wu, Tian-chen Hui, Qiao-qiao Yin, Wei Zheng, Hong-ying Pan

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Niemann Pick disease type B, Sea-blue histiocytosis, Budd-Chiari syndrome, SMPD1 gene, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/8d571523027547d08df209e10db93575

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3

دورية أكاديمية

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

المؤلفون: Zhou, Zhe-wen^{Aff1, Aff2}, Wang, Shou-hao, Xu, Cheng-an, Wu, Wen-hao, Hui, Tian-chen, Yin, Qiao-qiao, Zheng, Wei, Pan, Hong-ying^{Aff1, Aff2, IDs12920022013532_cor8}

المصدر: BMC Medical Genomics. 15(1)

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4

دورية أكاديمية

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5

دورية أكاديمية

Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson’s Disease

المؤلفون: Deng, Sheng, Deng, Xiong, Song, Zhi, Xiu, Xiaofei, Guo, Yi, Xiao, Jingjing, Deng, Hao

المصدر: Molecular Neurobiology. September 2016 53(7):5025-5029

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6

دورية أكاديمية

Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

المؤلفون: Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Fatemeh Keshavarzi, Omid Aryani, Sepideh Dadgar, Ahoora Arastehkani, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand

المصدر: International Journal of Molecular Sciences, Vol 16, Iss 4, Pp 6668-6676 (2015)

مصطلحات موضوعية: types A and B niemann-pick disease (NPD), sphingomyelin phosphodiesterase 1 (SMPD1) gene, acid sphingomyelinase (ASM), p.G508R, p.N385K and p.V36A, c.1033–1034insT and c.1417–1418delCT, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.mdpi.com/1422-0067/16/4/6668; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/055f2e6518b3495394e118d057421ae4

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7

Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family

المؤلفون: Halil Gürhan Karabulut, Hande Nur Cesur Baltacı, Fatma Tuba Eminoğlu, Elifcan Taşdelen, Vehap Topcu

المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:653-657

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9df64a9a0a8a29b3e1339f953cce144b
https://doi.org/10.1515/jpem-2020-0367

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Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene

المؤلفون: Daisuke Hasegawa, Makoto Haritani, Mun Keong Kok, Yuta Takaichi, Hiroyuki Nakayama, Hiroki Uchiyama, Kazuyuki Uchida, James K. Chambers

المصدر: Veterinary Pathology. 57:559-564

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a176cc3857e78170a7589326fed86d4f
https://doi.org/10.1177/0300985820921810

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Enhanced Arterial Stiffening in Obese Mice with Smooth Muscle‐Specific Overexpression of Smpd1 gene

المؤلفون: Xinxu Yuan, Pin-Lan Li, Fadi N Salloum, Owais M. Bhat

المصدر: The FASEB Journal. 35

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Biochemistry, Stiffening, Endocrinology, Smooth muscle, Internal medicine, Genetics, medicine, SMPD1 Gene, business, Molecular Biology, Biotechnology, Obese Mice

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::23540a9e96884cb85ff794db05f6036d
https://doi.org/10.1096/fasebj.2021.35.s1.03095

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10

Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)

المؤلفون: Wajdi Amayreh, Israa Okour, Hanan A Aljamal, Rame Khasawneh, Batool Al-Zoubi, Yazan Haddad, Amany Haddad, Laith N. AL-Eitan, Kifah Alqa'qa', Hazem Haddad

المصدر: Gene. 747

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e634653f7c00f56d85ebf62988bc243
https://pubmed.ncbi.nlm.nih.gov/32311413

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