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1 . Academic Journal
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report
저자
by
Monika Bekiesinska-Figatowska
;
Marek Duczkowski
;
Agnieszka Duczkowska
;
Joanna Taybert
;
Amanda Krzywdzinska
, et al.
소스
BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme
저자
by
Aleksandra Jezela-Stanek
;
Lidia Suchoń
;
Agnieszka Sobczyńska-Tomaszewska
;
Kamila Czerska
;
Katarzyna Kuśmierska
, et al.
소스
Genes, Vol 13, Iss 5, p 802 (2022)
Open Access (DOAJ)
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7 .
Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund
저자
by
Barbara Więckowska
;
Edward Franek
;
Winicjusz Filipow
;
Mariusz Zięba
;
Joanna Taybert
, et al.
소스
Pediatric endocrinology, diabetes, and metabolism
. 26(3)
Open Access (OpenAIRE)
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7 .
Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records
저자
by
Agnieszka Szypowska
;
Winicjusz Filipow
;
Joanna Taybert
;
Edward Franek
;
Mariusz Zięba
, et al.
소스
Pediatric Endocrinology Diabetes and Metabolism
. 24:118-125
Open Access (OpenAIRE)
Scopus
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7 .
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
저자
by
Grzegorz Węgrzyn
;
Tamara Szymanska-Debinska
;
Ewa Pronicka
;
Dorota Piekutowska-Abramczuk
;
Joanna Taybert
, et al.
소스
Journal of Applied Genetics
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7 .
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency
저자
by
Joanna Taybert
;
Dorota Piekutowska-Abramczuk
;
Agnieszka Karkucinska-Wieckowska
;
Magdalena Pajdowska
;
Maciej Pronicki
, et al.
소스
European Journal of Paediatric Neurology
. 14:253-260
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7 .
High frequency of missense mutations in glycogen storage disease type VI
저자
by
Joanna Taybert
;
A. Dalton
;
V. Layet
;
Nicholas J. Beauchamp
;
Michael Champion
, et al.
소스
Journal of Inherited Metabolic Disease
. 30:722-734
Web of Science
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7 .
Deficyt liazy adenylobursztynianowej – diagnostyka i charakterystyka kliniczna 7 polskich pacjentów
저자
by
Ewa M. Slominska
;
Anna Tylki-Szymańska
;
Agnieszka Jurecka
;
Anna Bogdańska
;
Joanna Taybert
, et al.
소스
Pediatria Polska
. 82:526-532
Scopus
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7 .
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis
저자
by
Ewa Pronicka
;
Maciej Adamowicz
;
Ewa Popowska
;
Joanna Taybert
;
Elżbieta Ciara
, et al.
소스
Molecular Genetics and Metabolism
. 79:149-159
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7 .
Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates
저자
by
Ewa Popowska
;
Dorota Piekutowska-Abramczuk
;
Ewa Pronicka
;
Maciej Pronicki
;
Elzbieta Karczmarewicz
, et al.
소스
Journal of Inherited Metabolic Disease
. 24:707-714
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