-
1Academic Journal
Authors: Nina V. Fedorova, Natalia V. Zhurkova, Nato D. Vashakmadze, Marina A. Babaykina, Grigory V. Revunenkov, Kirill V. Savostyanov, Olga B. Gordeeva, Leyla S. Namazova-Baranova, Н. В. Федорова, Н. В. Журкова, Н. Д. Вашакмадзе, М. А. Бабайкина, Г. В. Ревуненков, К. В. Савостьянов, О. Б. Гордеева, Л. С. Намазова-Баранова
Contributors: Not specified., Отсутствует.
Source: Pediatric pharmacology; Том 17, № 5 (2020); 459-466 ; Педиатрическая фармакология; Том 17, № 5 (2020); 459-466 ; 2500-3089 ; 1727-5776
Subject Terms: гипоплазия брюшного отдела аорты, lysosomal storage disease, gene GNPTAB, I-cell disease, neonatal hyperparathyroidism, abdominal aortic hypoplasia, лизосомные болезни накопления, ген GNPTAB, I-клеточная болезнь, ICD, неонатальный гиперпаратиреоз
File Description: application/pdf
Relation: https://www.pedpharma.ru/jour/article/view/1907/1191; Харрисон Т.Р. Лизосомные болезни накопления // Внутренние болезни: в 10 книгах; книга 8; пер. с англ. — М.: Медицина; 1996. — С. 250–273.; Leroy JG, DeMars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science. 1967;157(3790):804–806. doi:10.1126/science.157.3790.804.; De Mars RI, Leroy JG. The remarkable cells cultured from a human with Hurler’s syndrome: An approach to visual selection for in vitro genetic studies. In Vitro. 1966;2:107–118.; Leroy JG, Spranger JW, Feingold M, et al. I-cell disease: a clinical picture. J Pediatr. 1971;79(3):360–365. doi:10.1016/s00223476(71)80142-7.; Spranger JW, Wiedemann HR. The genetic mucolipidoses. Diagnostic and differential diagnosis. Humangenetik. 1970;9(2):113–139. doi:10.1007/BF00278928.; Международная классификация болезней 10-го пересмотра (МКБ-10). Available online: MKB-10.com. Accessed on November 03,2020.; Mucolipidosis, type II alpha/beta. OMIM. #252500. Available online: https://omim.org/entry/252500. Accessed on November 03,2020.; Cathey SS, Kudo M, Tiede S, et al. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet. 2008;146A(4):512–513. doi:10.1002/ajmg.a.32193.; Kudo M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAcphosphotransferase alpha/beta-subunits precursor gene. Am J Hum Genet. 2006;78(3):451–463. doi:10.1086/500849.; De Braekeleer M. Hereditary disorders in Saguenay-Lac-StJean (Quebec, Canada). Hum Hered. 1991;41(3):141–146. doi:10.1159/000153992.; Leroy JG, Cathey SS, Friez MJ. GNPTAB-Related Disorders. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993–2020. Available online: http://www.ncbi.nlm.nih.gov/books/NBK1828. Accessed on November 03,2020.; Leyva C, Buch M, Wierenga KJ, et al. A neonate with mucolipidosis II and transient secondary hyperparathyroidism. J Pediatr Endocrinol Metab, 2019;32(12):1399–1402. doi:10.1515/jpem2019-0162.; Семячкина А.Н., Воскобоева Е.Ю., Букина Т.М. и др. Клинико-генетическая характеристика муколипидоза II и IIIA типов у детей // Российский вестник перинатологии и педиатрии. — 2017. — Т. 62. — № 3. — С. 71–78. doi:10.21508/1027-4065-2017-62-3-71-78.; Cathey SS, Leroy JG, Wood T, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010;47(1):38–48. doi:10.1136/jmg.2009.067736.; Mueller P, Moeckel A, Daehnert T. Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2. Images Paediatr Cardiol. 2006;8(4):1–6.; Siles A, Mitchell G, Dahdah N. An Infant with Mucolipidosis-II and an Atretic orifice of the Left Coronary Artery. Cardiol Young. 2010;20(1):97–99. doi:10.1017/S1047951109991843.; Daimon M, Yamagishi M. Surgical treatment of marked mitral valvar deformity combined with I-cell disease ‘Mucolipidosis II’. Cardiol Young. 2005;15(5):517–519. doi:10.1017/S104795110500140X.; Bounds RL, Kuebler J, Cholette JM, et al. Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease. World J Pediatr Congenit Heart Surg. 2018;9(2):246–250. doi:10.1177/2150135116664701.; Alfadhel M, AlShehhi W, Alshaalan H, et al. Mucolipidosis II: first report from Saudi Arabia. Ann Saudi Med. 2013;33(4):382–386. doi:10.5144/0256-4947.2013.382.; Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Hum Mutat. 2019;40(7):842–864. doi:10.1002/humu.23748.; Singh A, Prasad R, Gupta AK, et al. I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. Indian J Pediatr. 2017;84(2):144–146. doi:10.1007/s12098-016-2243-7.; Lund TC, Cathey SS, Miller WP, et al. Outcomes after Hematopoietic Stem Cell Transplant for Children with I-Cell Disease. Biol Blood Marrow Transplant. 2014;20(11):1847–1851. doi:10.1016/j.bbmt.2014.06.019.; https://www.pedpharma.ru/jour/article/view/1907
-
2Academic Journal
Subject Terms: NEONATAL HYPERPARATHYROIDISM,CALCIUM-SENSING RECEPTOR,CASR GENE,НЕОНАТАЛЬНЫЙ ГИПЕРПАРАТИРЕОЗ,КАЛЬЦИЙСЕНСОРНЫЙ РЕЦЕПТОР,ГЕН CASR
File Description: text/html
-
3Academic Journal
Source: Проблемы эндокринологии.
Subject Terms: 03 medical and health sciences, 0302 clinical medicine, NEONATAL HYPERPARATHYROIDISM,CALCIUM-SENSING RECEPTOR,CASR GENE,НЕОНАТАЛЬНЫЙ ГИПЕРПАРАТИРЕОЗ,КАЛЬЦИЙСЕНСОРНЫЙ РЕЦЕПТОР,ГЕН CASR, 3. Good health
File Description: text/html
