Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Joanna, Taybert"'
Autor:
Monika Bekiesinska-Figatowska, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska, Jolanta Sykut-Cegielska
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffuse
Externí odkaz:
https://doaj.org/article/64ab916976b34e51a99c28aec9ffa5ca
Autor:
Aleksandra Jezela-Stanek, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska, Kamila Czerska, Katarzyna Kuśmierska, Joanna Taybert, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 802
Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e97e69c34afdc90ab9358d13b9e0d58f
Autor:
Barbara Więckowska, Edward Franek, Winicjusz Filipow, Mariusz Zięba, Joanna Taybert, Agnieszka Szypowska, Paweł Kabicz, Jolanta Sykut-Cegielska, Władysław Grzeszczak
Publikováno v:
Pediatric endocrinology, diabetes, and metabolism. 26(3)
To avoid the risk of intellectual disabilities, newborns in Poland are screened for phenylketonuria and are recommended to start a life-long phenylalanine-restricted diet shortly after birth. The aim of this paper is to evaluate the health care for p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b968cc2c5b001a5cb021bffacc13445b
https://pubmed.ncbi.nlm.nih.gov/32901468
https://pubmed.ncbi.nlm.nih.gov/32901468
Autor:
Agnieszka Szypowska, Winicjusz Filipow, Joanna Taybert, Edward Franek, Mariusz Zięba, Paweł Kabicz, Jolanta Sykut-Cegielska, Barbara Więckowska, Władysław Grzeszczak
Publikováno v:
Pediatric Endocrinology Diabetes and Metabolism. 24:118-125
Patients with disorders of aromatic amino acid metabolism are a heterogeneous group. They vary in morbidity and medical care requirements. Polish newborn screening program allows for quick diagnosis of some inborn errors of metabolism (such as classi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9af6509735ca8d6a05fc58bf63b2ea
https://doi.org/10.5114/pedm.2018.80993
https://doi.org/10.5114/pedm.2018.80993
Autor:
Grzegorz Węgrzyn, Tamara Szymanska-Debinska, Ewa Pronicka, Dorota Piekutowska-Abramczuk, Joanna Taybert, Piotr Socha, Maciej Pronicki, Jolanta Sykut-Cegielska, Agnieszka Karkucinska-Wieckowska, Paweł Kowalski, Anna Weglewska-Jurkiewicz, Joanna Jakóbkiewicz-Banecka, Magdalena Pajdowska
Publikováno v:
Journal of Applied Genetics
Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40fb61d12effdcf50f12863208e8a320
http://europepmc.org/articles/PMC3026684
http://europepmc.org/articles/PMC3026684
Autor:
Joanna Taybert, Dorota Piekutowska-Abramczuk, Agnieszka Karkucinska-Wieckowska, Magdalena Pajdowska, Maciej Pronicki, Ewa Popowska, Bogumiła Milewska-Bobula, Jolanta Sykut-Cegielska, Elzbieta Karczmarewicz, Tamara Szymanska-Debinska, Paweł Kowalski, Marek Migdał
Publikováno v:
European Journal of Paediatric Neurology. 14:253-260
Infants with deficiency of cytochrome c oxidase (COX) due to SCO2 mutations observed so far usually demonstrated early cardiomyopathy, encephalopathy and lactic acidosis. Milder spinal muscular atrophy-like (SMA-like) phenotype was also rarely report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b6104f854ec62ff1d95c7ad01488833
https://doi.org/10.1016/j.ejpn.2009.09.008
https://doi.org/10.1016/j.ejpn.2009.09.008
Autor:
Joanna Taybert, A. Dalton, V. Layet, Nicholas J. Beauchamp, Michael Champion, Ewa Pronicka, M. J. Sharrard, P. Heinz-Erian, M. S. Tanner
Publikováno v:
Journal of Inherited Metabolic Disease. 30:722-734
Deficiency of liver glycogen phosphorylase in glycogen storage disease (GSD) type VI results in a reduced ability to mobilize glucose from glycogen. Six mutations of the PYGL gene, which encodes the liver isoform of the enzyme, have been identified i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40e8f1a8e2e0f0f424f03fa0a5d3ae83
https://doi.org/10.1007/s10545-007-0499-9
https://doi.org/10.1007/s10545-007-0499-9
Autor:
Ewa M. Slominska, Anna Tylki-Szymańska, Agnieszka Jurecka, Anna Bogdańska, Joanna Taybert, Ewa Pronicka, Ryszard T. Smolenski, Tomasz Kmieć, Jolanta Sykut-Cegielska, Hanna Mierzewska, Monika Pohorecka
Publikováno v:
Pediatria Polska. 82:526-532
Wstep Deficyt liazy adenylobursztynianowej (ADSL), przebiegający z drgawkami i glebokim upośledzeniem umyslowym, nalezy do wrodzonych wad metabolizmu, dziedziczonych w sposob autosomalny recesywny. Dotychczas zostal on rozpoznany u 50 pacjentow na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9a11d2f89058aaa2d9c443759c42e1c
https://doi.org/10.1016/s0031-3939(07)70368-2
https://doi.org/10.1016/s0031-3939(07)70368-2
Autor:
Ewa Pronicka, Maciej Adamowicz, Ewa Popowska, Joanna Taybert, Elżbieta Ciara, Jolanta Kubalska, Christina Hellerud, Dorota Jurkiewicz, Sven Lindstedt, James R. Ellis
Publikováno v:
Molecular Genetics and Metabolism. 79:149-159
Five cases of glycerol kinase deficiency are presented with clinical, biochemical, and genetic results. Two had the glycerol kinase deficiency as part of an Xp21 contiguous gene deletion syndrome—complex form—and three had an isolated form of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28589fc63cb454ea29ad25b76e5b2a4e
https://doi.org/10.1016/s1096-7192(03)00094-5
https://doi.org/10.1016/s1096-7192(03)00094-5
Autor:
Ewa Popowska, Dorota Piekutowska-Abramczuk, Ewa Pronicka, Maciej Pronicki, Elzbieta Karczmarewicz, Joanna Taybert, Y. Sykut-Cegielskâ
Publikováno v:
Journal of Inherited Metabolic Disease. 24:707-714
Experimental data show that elevation of intracellular pH leads to severe lesions of brain cells. Acidification of intracellular fluid by accumulation of lactate may compensate the effect of respiratory alkalosis. Increased serum pH, and low PCO2, as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a7aa6c91dcc1c9964152821892d9ac8
https://doi.org/10.1023/a:1012937204315
https://doi.org/10.1023/a:1012937204315