المؤلفون: Mehmet Canpolat, Hüseyin Per, Munis Dundar

المصدر: Güncel Pediatri, Vol 14, Iss 1, Pp 18-22 (2016)

مصطلحات موضوعية: newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys (50%) and 19 girls (50%). The mean age of patients was 26.9±25.7 months (range: 3-96 months). The mean follow-up period was 12.2±13.3 months (range: 2-48 months). According to SMA classification, 22 patients (57.8%) were type 1, 8 patients (21.1%) were type 2, and 8 patients were (21.1%) type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, Prognostic factors, spinal muscular atrophy, survival motor neuron gene 1, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.guncelpediatri.com/makale_10557/Spinal-Muskuler-Atrofi-Olgularinin-Klinik-Ozellikleri; https://doaj.org/toc/1304-9054

URL الوصول: https://doaj.org/article/3555bcb204bb40f2b523b83eb44b2a6e

المؤلفون: Canpolat, Mehmet, Bayram, Ayşe Kaçar, Bahadır, Oğuzhan, Per, Hüseyin, Gümüş, Hakan, Dundar, Munis, Kumandaş, Sefer

مصطلحات موضوعية: Prognostik faktörler, Spinal musküler atrofi, Survival motor nöron gen 1, Prognostic factors, Spinal muscular atrophy, Survival motor neuron gene 1

وصف الملف: application/pdf

Relation: Makale - Uluslararası Hakemli Dergi; Güncel Pediatri / The Journal of Current Pediatrics; Canpolat, M. vd. (2016). "Spinal musküler atrofi olgularının klinik özellikleri". Güncel Pediatri, 14(1), 18-22.; https://dergipark.org.tr/tr/download/article-file/902882; http://hdl.handle.net/11452/11154; 18; 22; 14

الاتاحة: http://hdl.handle.net/11452/11154
https://dergipark.org.tr/tr/download/article-file/902882

المؤلفون: CANPOLAT, Mehmet, KAÇAR BAYRAM, Ayşe, BAHADIR, Oğuzhan, PER, Hüseyin, GÜMÜŞ, Hakan, DUNDAR, Munis, KUMANDAŞ, Sefer

المصدر: Volume: 14, Issue: 1 18-22
Güncel Pediatri

مصطلحات موضوعية: Spinal musküler atrofi, Survival motor nöron gen 1, Prognostic factors,spinal muscular atrophy,survival motor neuron gene 1, Prognostik faktörler,spinal musküler atrofi,survival motor nöron gen 1, Spinal muscular atrophy, Survival motor neuron gene 1, Prognostic factors, Prognostik faktörler

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5b84e97992ca9f6b2a380c8590662431
http://hdl.handle.net/11452/11154

المؤلفون: Qu Yu-jin, Song Fang, Yang Yan-ling, Jin Yu-wei, Bai Jin-li

المساهمون: Song, F (reprint author), Capital Inst Pediat, Dept Med Genet, Beijing 100020, Peoples R China., Capital Inst Pediat, Dept Med Genet, Beijing 100020, Peoples R China., Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China.

المصدر: SCI

مصطلحات موضوعية: spinal muscular atrophy, survival motor neuron gene 1, compound heterozygous mutation, gene conversion, MOLECULAR ANALYSIS, MISSENSE MUTATION, SMA PATIENTS, GENE, SMN1, IDENTIFICATION, DELETIONS, PCR, SEVERITY, PROTEIN

Relation: CHINESE MEDICAL JOURNAL.2011,124,(3),385-389.; 917575; http://hdl.handle.net/20.500.11897/395187; WOS:000287992400012

الاتاحة: https://hdl.handle.net/20.500.11897/395187
https://doi.org/10.3760/cma.j.issn.0366-6999.2011.03.012

المؤلفون: 瞿宇晋, 都娟, 李尔珍, 杨艳玲, 邹丽萍, 白晋丽, 王红, 金煜炜, 宋昉

المساهمون: 首都儿科研究所遗传室,北京,100020, 首都儿科研究所附属儿童医院神经内科,北京,100020, 北京大学第一医院妇产儿童医院, 中国人民解放军总医院儿科

المصدر: 万方 ; http://d.g.wanfangdata.com.cn/Periodical_zhyxycx201102001.aspx

مصطلحات موضوعية: 脊髓性肌萎缩症, 运动神经元存活基因1, 点突变, 拷贝数, spinal muscular atrophy, survival motor neuron gene 1, point mutation, copy numbers

Relation: 中华医学遗传学杂志.2011,28,(2),121-126.; 1243963; http://hdl.handle.net/20.500.11897/287476

الاتاحة: https://hdl.handle.net/20.500.11897/287476
https://doi.org/10.3760/cma.j.issn.1003-9406.2011.02.001