[HTML][HTML] Psychiatric manifestations of inborn errors of metabolism: A systematic review
N van de Burgt, W van Doesum, M Grevink… - Neuroscience & …, 2023 - Elsevier
Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a
result of an inherited disease, leading to the accumulation or decreased excretion of …
result of an inherited disease, leading to the accumulation or decreased excretion of …
Autosomal-recessive cerebellar ataxias
BL Fogel - Handbook of Clinical Neurology, 2018 - Elsevier
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic
forms of ataxia and represent an extensive group of clinically heterogeneous disorders that …
forms of ataxia and represent an extensive group of clinically heterogeneous disorders that …
Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort
AC Cecchi, ES Vengoechea… - Molecular genetics & …, 2019 - Wiley Online Library
Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme
activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative …
activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative …
Next‐generation DNA sequencing of HEXA: a step in the right direction for carrier screening
JD Hoffman, V Greger, ET Strovel… - … Genetics & Genomic …, 2013 - Wiley Online Library
T ay‐S achs disease (TSD) is the prototype for ethnic‐based carrier screening, with a carrier
rate of~ 1/27 in A shkenazi J ews and F rench C anadians. HexA enzyme analysis is the …
rate of~ 1/27 in A shkenazi J ews and F rench C anadians. HexA enzyme analysis is the …
[HTML][HTML] Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c. 259G> T and c. 164C> T mutations in the GM2A gene
C Martins, C Brunel-Guitton, A Lortie, F Gauvin… - Molecular genetics and …, 2017 - Elsevier
Abstract G M2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited
disorder caused by mutations in the GM2A gene that encodes G M2 ganglioside activator …
disorder caused by mutations in the GM2A gene that encodes G M2 ganglioside activator …
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum
DMA Ibrahim, OSM Ali, H Nasr, E Fateen… - Orphanet Journal of …, 2023 - Springer
Abstract Background Tay-Sachs disease (TSD), an autosomal recessively inherited
neurodegenerative lysosomal storage disease, reported worldwide with a high incidence …
neurodegenerative lysosomal storage disease, reported worldwide with a high incidence …
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA …
NJ Park, C Morgan, R Sharma, Y Li, RM Lobo… - Pediatric …, 2010 - nature.com
The purpose of this study was to determine whether combining different testing modalities
namely β-hexosaminidase A (HEXA) enzyme analysis, HEXA DNA common mutation assay …
namely β-hexosaminidase A (HEXA) enzyme analysis, HEXA DNA common mutation assay …
Molecular analysis of HEXA gene in Argentinean patients affected with Tay–Sachs disease: possible common origin of the prevalent c. 459+ 5A> G mutation
S Zampieri, A Montalvo, M Blanco, I Zanin, H Amartino… - Gene, 2012 - Elsevier
Tay–Sachs disease (TSD) is a recessively inherited disorder caused by the deficient activity
of hexosaminidase A due to mutations in the HEXA gene. Up to date there is no information …
of hexosaminidase A due to mutations in the HEXA gene. Up to date there is no information …
Mutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?
AJ Duarte, D Ribeiro, P Oliveira, O Amaral - Archives of Medical Research, 2017 - Elsevier
Background The ascertainment of mutation frequencies in the general population may have
impact on the population's wellbeing and respective healthcare services. Furthermore, it …
impact on the population's wellbeing and respective healthcare services. Furthermore, it …
Ганглиозидоз GM2 у взрослых: первое российское наблюдение и обзор литературы
ГЕ Руденская, АМ Букина, ТМ Букина… - Медицинская …, 2015 - medgen-journal.ru
Аннотация Два клинически сходных генетических варианта ганглиозидоза GM2 (Г-
GM2)-болезнь Тея-Сакса (БТС), распространенная у евреев-ашкенази, и болезнь …
GM2)-болезнь Тея-Сакса (БТС), распространенная у евреев-ашкенази, и болезнь …