Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Progressive microcephaly"'
Akademický článek
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Akademický článek
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Autor:
Milena Greczan, Irena Jankowska, Dorota Piekutowska-Abramczuk, Anna Tylki-Szymańska, Piotr Socha, Elżbieta Jurkiewicz, Patryk Lipiński, Agnieszka Bakuła, Dariusz Rokicki
Publikováno v:
Metabolic Brain Disease
Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurol
Publikováno v:
Journal of Pediatric Neurology. 20:277-282
Molybdenum cofactor deficiency (MoCD) is a rare neurometabolic disorder characterized by intractable seizures, progressive microcephaly, tone abnormalities, facial dysmorphism, and feeding difficulties in the neonatal period. We present two different
Autor:
Nobuhiko Okamoto, Tadashi Kaname, Yuiko Hasegawa, Eriko Nishi, Toshiyuki Yamamoto, Kimiko Ueda, Keiko Matsuda, Kumiko Yanagi, Satoru Ogawa
Publikováno v:
American Journal of Medical Genetics Part A. 185:3092-3098
Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability (ID), a distinctive gait pattern, abnormal behaviors, severe impairment in language development, and characteristic facial features. Most cases are caused by
Autor:
Gabriella Di Rosa, Sebastiano A. Musumeci, Antonino Musumeci, Rita Barone, Francesco Calì, Antonio Gennaro Nicotera, Giulia Spoto, Agata Fiumara, Mirella Vinci, Giusi Romeo
Publikováno v:
Molecular Syndromology. 12:327-332
Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes involved in the biosynthesis or remodeling of the glycan moieties of glycoconjugates. Most of CDG are autosomal recessive; however, f
Akademický článek
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Publikováno v:
Transl Pediatr
The RARS2 gene encodes mitochondrial arginine-tRNA synthetase. Patients with variants of the RARS2 gene have pontocerebellar hypoplasia type 6 (PCH6), which is characterized by early onset seizures, progressive microcephaly, and developmental delay.
Autor:
Mohammad H. Al-Qahtani, Shatha Alharazy, Angham Abdulrahman Abdulkareem, Adeel G. Chaudhary, Mohammed M. Jan, Muhammad Imran Naseer
Publikováno v:
Saudi Journal of Biological Sciences
Saudi Journal of Biological Sciences, Vol 27, Iss 11, Pp 3125-3131 (2020)
Saudi Journal of Biological Sciences, Vol 27, Iss 11, Pp 3125-3131 (2020)
Intellectual developmental disorder with abnormal behavior, microcephaly and short stature (IDDABS), (OMIM# 618342) is an autosomal recessive condition described as developmental delay, poor or absent speech, intellectual disability, short stature, m
Autor:
Joana Teixeira
Publikováno v:
Genetics & Genomic Sciences. 5:1-9
Our results support the deleterious role of SLC1A4 variants and highlight the need of considering this entity, regardless of ethnicity, in pediatric patients presenting with unexplained neurodevelopmental delay and progressive microcephaly, associate