Výsledky vyhledávání - "Helena Jahnová"

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

Autor: Martin Magner, Igor Nestrasil, Helena Jahnová, Anita Hennig, Petr Dusek, Jitka Majovska, Susanne A. Schneider, Manuela Vaněčková

Publikováno v: Neurological Sciences. 43:3273-3281

Late-onset Tay-Sachs disease (LOTS) is a form of GM2 gangliosidosis, an autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment due to mutations in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42673cbfdeee817f1c4b51f8924c337
https://doi.org/10.1007/s10072-021-05757-3

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Extremely low birthweight neonates with phenylketonuria require special dietary management

Autor: Marketa Zemanova, Petra Sanakova, Petr Chrastina, Helena Jahnová, Barbara Tesarova, Jiri Zeman, Lucie Prochazkova, Dagmar Procházková, Vaclav Sebron

Publikováno v: Acta Paediatrica. 110:2994-2999

AIM Extremely low birthweight (ELBW) neonates require a high protein intake, but this can be challenging in the very rare cases when they also have phenylketonuria (PKU). This is due to a lack of suitable parenteral nutrition or enteral formula. Our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c923d521d1fa09e25531284b7c774462
https://doi.org/10.1111/apa.16035

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Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Autor: Marketa Tesarova, Pavlina Skalicka, Alice E. Davidson, Nicole Anteneova, Amanda N. Sadan, Monika Chylova, Petra Liskova, Tomas Honzik, Helena Jahnová, Lubica Dudakova

Publikováno v: Genes
Genes; Volume 12; Issue 12; Pages: 1918
Genes, Vol 12, Iss 1918, p 1918 (2021)

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d48a28a48120fe9803677edafea4ada
http://europepmc.org/articles/PMC8702069

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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

Autor: Jitka Jireckova, Radim Mazanec, Alena Zumrová, Helena Poupětová, Eva Košťálová, Martin Magner, Hana Vlaskova, Petr Mečíř, Zuzana Musova, Helena Jahnová

Publikováno v: Journal of Neurology. 266:1953-1959

Tay–Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80844c089d6efacd0aa328935b019340
https://doi.org/10.1007/s00415-019-09364-3

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Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Autor: Vera Malinova, Ladislav Kuchar, Helena Jahnová, Befekadu Asfaw, Maria Gulinello, Jakub Sikora, Helena Poupetova, A. Lugowska, Jana Ledvinová

Publikováno v: Analytical Biochemistry. 525:73-77

Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907a5cf2b5627369faf1680595a8b8d5
https://doi.org/10.1016/j.ab.2017.02.019

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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Autor: Jonathan D. Cooper, Roberto Giugliani, Michael Fietz, Winnie Xin, Helena Poupetova, Sara E. Mole, Emanuela Izzo, Nicola Specchio, David A. Pearce, Helena Jahnová, Angela Schulz, Nicole Miller, Derek Burke, Jessica L. Cohen-Pfeffer, Inés Noher de Halac, Moeenaldeen Al-Sayed, Zoltan Lukacs, Lenka Dvořáková

Publikováno v: Fietz, M, AlSayed, M, Burke, D, Cohen-Pfeffer, J, Cooper, J D, Dvořáková, L, Giugliani, R, Izzo, E, Jahnová, H, Lukacs, Z, Mole, S E, de Halac, I N, Pearce, D A, Poupetova, H, Schulz, A, Specchio, N, Xin, W & Miller, N 2016, ' Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis ', MOLECULAR GENETICS AND METABOLISM . https://doi.org/10.1016/j.ymgme.2016.07.011

Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the trip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b5ec0f16a14953201b7d72f5f7d8ea
https://doi.org/10.1016/j.ymgme.2016.07.011

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Psychologické nálezy v rodině pacientů s Niemann-Pickovou chorobou typu C

Autor: Renata Hermánková, Helena Jahnová, Pavel Ješina

Publikováno v: Psychologie pro Praxi, Vol 49, Iss 3, Pp 143-151 (2015)

The text pays attention to psychological assessment of executive functions in rare inherited metabolic disorders as a part of a complex assessment process. Early assessment appears crucial to start efficient interventions and treatment. Specifics of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::25034978b6b301ce778c8a56d4f06919
https://doaj.org/article/f2c939357abf43b6beb622fb854a7e0f

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