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Proton MR Spectroscopy in Patients with Leigh Syndrome.

The neuroradiology journal

Jurkiewicz E, Chełstowska S, Pakuła-Kościesza I, Malczyk K, Nowak K, Bekiesińska-Figatowska M, Sykut-Cegielska J, Piekutowska-Abramczuk D, Pronicka E.
PMID: 24059666
Neuroradiol J. 2011 Jun 30;24(3):424-8. doi: 10.1177/197140091102400312. Epub 2011 Jun 24.

The aim of the present study was to evaluate MRS findings in patients with Leigh syndrome. We report our results of HMR spectroscopic studies performed in six patients (aged four months to ten years) with clinically proved Leigh syndrome....

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Jurkiewicz E, Chełstowska S, Pakuła-Kościesza I, et al. Proton MR Spectroscopy in Patients with Leigh Syndrome. Neuroradiol J. 2011;24(3):424-8doi: 10.1177/197140091102400312.
Jurkiewicz, E., Chełstowska, S., Pakuła-Kościesza, I., Malczyk, K., Nowak, K., Bekiesińska-Figatowska, M., Sykut-Cegielska, J., Piekutowska-Abramczuk, D., & Pronicka, E. (2011). Proton MR Spectroscopy in Patients with Leigh Syndrome. The neuroradiology journal, 24(3), 424-8. https://doi.org/10.1177/197140091102400312
Jurkiewicz, E, et al. "Proton MR Spectroscopy in Patients with Leigh Syndrome." The neuroradiology journal vol. 24,3 (2011): 424-8. doi: https://doi.org/10.1177/197140091102400312
Jurkiewicz E, Chełstowska S, Pakuła-Kościesza I, Malczyk K, Nowak K, Bekiesińska-Figatowska M, Sykut-Cegielska J, Piekutowska-Abramczuk D, Pronicka E. Proton MR Spectroscopy in Patients with Leigh Syndrome. Neuroradiol J. 2011 Jun 30;24(3):424-8. doi: 10.1177/197140091102400312. Epub 2011 Jun 24. PMID: 24059666.
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Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Molecular genetics and metabolism reports

Wesół-Kucharska D, Greczan M, Kaczor M, Pajdowska M, Piekutowska-Abramczuk D, Ciara E, Halat-Wolska P, Kowalski P, Jurkiewicz E, Rokicki D.
PMID: 34631424
Mol Genet Metab Rep. 2021 Sep 29;29:100801. doi: 10.1016/j.ymgmr.2021.100801. eCollection 2021 Dec.

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in METHOD: A retrospective review of clinical characteristics, magnetic resonance imaging and molecular findings in 3 patients with BTBGD.RESULTS: The first symptoms in...

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Wesół-Kucharska D, Greczan M, Kaczor M, et al. Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis. Mol Genet Metab Rep. 2021;29:100801doi: 10.1016/j.ymgmr.2021.100801.
Wesół-Kucharska, D., Greczan, M., Kaczor, M., Pajdowska, M., Piekutowska-Abramczuk, D., Ciara, E., Halat-Wolska, P., Kowalski, P., Jurkiewicz, E., & Rokicki, D. (2021). Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis. Molecular genetics and metabolism reports, 29100801. https://doi.org/10.1016/j.ymgmr.2021.100801
Wesół-Kucharska, Dorota, et al. "Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis." Molecular genetics and metabolism reports vol. 29 (2021): 100801. doi: https://doi.org/10.1016/j.ymgmr.2021.100801
Wesół-Kucharska D, Greczan M, Kaczor M, Pajdowska M, Piekutowska-Abramczuk D, Ciara E, Halat-Wolska P, Kowalski P, Jurkiewicz E, Rokicki D. Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis. Mol Genet Metab Rep. 2021 Sep 29;29:100801. doi: 10.1016/j.ymgmr.2021.100801. eCollection 2021 Dec. PMID: 34631424; PMCID: PMC8488057.
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Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Molecular genetics and metabolism reports

Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E.
PMID: 27144126
Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun.

Pyruvate dehydrogenase complex (PDHc) defect is a well-known cause of mitochondrial disorders (MD) with at least six responsible genes (PDHA1, PDHB, DLAT, DLD, PDHX, PDP1). The aim of this work was to assess the diagnostic value of biochemical methods...

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Ciara E, Rokicki D, Halat P, et al. Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Mol Genet Metab Rep. 2016;7:70-6doi: 10.1016/j.ymgmr.2016.03.004.
Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., & Pronicka, E. (2016). Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Molecular genetics and metabolism reports, 770-6. https://doi.org/10.1016/j.ymgmr.2016.03.004
Ciara, E, et al. "Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing." Molecular genetics and metabolism reports vol. 7 (2016): 70-6. doi: https://doi.org/10.1016/j.ymgmr.2016.03.004
Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun. PMID: 27144126; PMCID: PMC4840431.
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Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to .

Molecular genetics and metabolism reports

Wesół-Kucharska D, Kaczor M, Pajdowska M, Ehmke Vel Emczyńska-Seliga E, Bogdańska A, Kozłowski D, Piekutowska-Abramczuk D, Ciara E, Rokicki D.
PMID: 31921599
Mol Genet Metab Rep. 2020 Jan 08;22:100559. doi: 10.1016/j.ymgmr.2019.100559. eCollection 2020 Mar.

INTRODUCTION: Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (MATERIAL AND METHOD: The purpose of...

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Wesół-Kucharska D, Kaczor M, Pajdowska M, et al. Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to . Mol Genet Metab Rep. 2020;22:100559doi: 10.1016/j.ymgmr.2019.100559.
Wesół-Kucharska, D., Kaczor, M., Pajdowska, M., Ehmke Vel Emczyńska-Seliga, E., Bogdańska, A., Kozłowski, D., Piekutowska-Abramczuk, D., Ciara, E., & Rokicki, D. (2020). Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to . Molecular genetics and metabolism reports, 22100559. https://doi.org/10.1016/j.ymgmr.2019.100559
Wesół-Kucharska, Dorota, et al. "Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to ." Molecular genetics and metabolism reports vol. 22 (2020): 100559. doi: https://doi.org/10.1016/j.ymgmr.2019.100559
Wesół-Kucharska D, Kaczor M, Pajdowska M, Ehmke Vel Emczyńska-Seliga E, Bogdańska A, Kozłowski D, Piekutowska-Abramczuk D, Ciara E, Rokicki D. Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to . Mol Genet Metab Rep. 2020 Jan 08;22:100559. doi: 10.1016/j.ymgmr.2019.100559. eCollection 2020 Mar. PMID: 31921599; PMCID: PMC6950841.
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NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.

Metabolic brain disease

Lipiński P, Greczan M, Piekutowska-Abramczuk D, Jurkiewicz E, Bakuła A, Socha P, Jankowska I, Rokicki D, Tylki-Szymańska A.
PMID: 34427841
Metab Brain Dis. 2021 Oct;36(7):2169-2172. doi: 10.1007/s11011-021-00827-z. Epub 2021 Aug 24.

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 neurologic features, including a motor delay,...

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Lipiński P, Greczan M, Piekutowska-Abramczuk D, et al. NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy. Metab Brain Dis. 2021;36(7):2169-2172doi: 10.1007/s11011-021-00827-z.
Lipiński, P., Greczan, M., Piekutowska-Abramczuk, D., Jurkiewicz, E., Bakuła, A., Socha, P., Jankowska, I., Rokicki, D., & Tylki-Szymańska, A. (2021). NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy. Metabolic brain disease, 36(7), 2169-2172. https://doi.org/10.1007/s11011-021-00827-z
Lipiński, Patryk, et al. "NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy." Metabolic brain disease vol. 36,7 (2021): 2169-2172. doi: https://doi.org/10.1007/s11011-021-00827-z
Lipiński P, Greczan M, Piekutowska-Abramczuk D, Jurkiewicz E, Bakuła A, Socha P, Jankowska I, Rokicki D, Tylki-Szymańska A. NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy. Metab Brain Dis. 2021 Oct;36(7):2169-2172. doi: 10.1007/s11011-021-00827-z. Epub 2021 Aug 24. PMID: 34427841; PMCID: PMC8437862.
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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Human mutation

Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R, Claeys KG, Ciara E, Eisen J, Płoski R, Pronicka E, Malczyk K, Wagner M, Wortmann SB, Prokisch H.
PMID: 33348459
Hum Mutat. 2021 Mar;42(3):310-319. doi: 10.1002/humu.24160. Epub 2021 Jan 03.

Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients...

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Stenton SL, Piekutowska-Abramczuk D, Kulterer L, et al. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum Mutat. 2021;42(3):310-319doi: 10.1002/humu.24160.
Stenton, S. L., Piekutowska-Abramczuk, D., Kulterer, L., Kopajtich, R., Claeys, K. G., Ciara, E., Eisen, J., Płoski, R., Pronicka, E., Malczyk, K., Wagner, M., Wortmann, S. B., & Prokisch, H. (2021). Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Human mutation, 42(3), 310-319. https://doi.org/10.1002/humu.24160
Stenton, Sarah L, et al. "Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance." Human mutation vol. 42,3 (2021): 310-319. doi: https://doi.org/10.1002/humu.24160
Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R, Claeys KG, Ciara E, Eisen J, Płoski R, Pronicka E, Malczyk K, Wagner M, Wortmann SB, Prokisch H. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum Mutat. 2021 Mar;42(3):310-319. doi: 10.1002/humu.24160. Epub 2021 Jan 03. PMID: 33348459.
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No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.

JIMD reports

Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E.
PMID: 26427993
JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 02.

SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia. To investigate the association of SCO2 mutations with myopia, ophthalmic examinations...

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Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, et al. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. JIMD Rep. 2015;27:63-8doi: 10.1007/8904_2015_468.
Piekutowska-Abramczuk, D., Kocyła-Karczmarewicz, B., Małkowska, M., Łuczak, S., Iwanicka-Pronicka, K., Siegmund, S., Yang, H., Wen, Q., Hoang, Q. V., Silverman, R. H., Kowalski, P., Szczypińska, O., Czornak, K., Zimowski, J., Płoski, R., Pilch, J., Ciara, E., Zaremba, J., Krajewska-Walasek, M., Schon, E. A., & Pronicka, E. (2016). No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. JIMD reports, 2763-8. https://doi.org/10.1007/8904_2015_468
Piekutowska-Abramczuk, Dorota, et al. "No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction." JIMD reports vol. 27 (2016): 63-8. doi: https://doi.org/10.1007/8904_2015_468
Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 02. PMID: 26427993; PMCID: PMC4864719.
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Acute liver failure due to DGUOK deficiency-is liver transplantation justified?.

Clinics and research in hepatology and gastroenterology

Jankowska I, Czubkowski P, Rokicki D, Lipiński P, Piekutowska-Abramczuk D, Ciara E, Płoski R, Kaliciński P, Szymczak M, Pawłowska J, Socha P.
PMID: 32278775
Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101408. doi: 10.1016/j.clinre.2020.02.018. Epub 2020 Apr 08.

BACKGROUND: Deoxyguanosine kinase (DGUOK) deficiency is one of the causes of the hepatocerebral form of mitochondrial depletion syndrome (MDS). It is characterized by an early onset of liver failure with concomitant neurological deterioration. In the current literature, there are...

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Jankowska I, Czubkowski P, Rokicki D, et al. Acute liver failure due to DGUOK deficiency-is liver transplantation justified?. Clin Res Hepatol Gastroenterol. 2020;45(1):101408doi: 10.1016/j.clinre.2020.02.018.
Jankowska, I., Czubkowski, P., Rokicki, D., Lipiński, P., Piekutowska-Abramczuk, D., Ciara, E., Płoski, R., Kaliciński, P., Szymczak, M., Pawłowska, J., & Socha, P. (2021). Acute liver failure due to DGUOK deficiency-is liver transplantation justified?. Clinics and research in hepatology and gastroenterology, 45(1), 101408. https://doi.org/10.1016/j.clinre.2020.02.018
Jankowska, Irena, et al. "Acute liver failure due to DGUOK deficiency-is liver transplantation justified?." Clinics and research in hepatology and gastroenterology vol. 45,1 (2021): 101408. doi: https://doi.org/10.1016/j.clinre.2020.02.018
Jankowska I, Czubkowski P, Rokicki D, Lipiński P, Piekutowska-Abramczuk D, Ciara E, Płoski R, Kaliciński P, Szymczak M, Pawłowska J, Socha P. Acute liver failure due to DGUOK deficiency-is liver transplantation justified?. Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101408. doi: 10.1016/j.clinre.2020.02.018. Epub 2020 Apr 08. PMID: 32278775.
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SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

Journal of applied genetics

Piekutowska-Abramczuk D, Popowska E, Pronicka E, Karczmarewicz E, Pronicki M, Kmieć T, Krajewska-Walasek M.
PMID: 14564068
J Appl Genet. 2001;42(1):103-8.

One of the most frequent forms of Leigh syndrome (LS), a severe neurodegenerative, genetically heterogenous disease, is associated with cytochrome c oxidase (COX) deficiency. No mutations in any of the 13 polypeptide subunits of human COX have been detected...

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Piekutowska-Abramczuk D, Popowska E, Pronicka E, et al. SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. J Appl Genet. 2001;42(1):103-8
Piekutowska-Abramczuk, D., Popowska, E., Pronicka, E., Karczmarewicz, E., Pronicki, M., Kmieć, T., & Krajewska-Walasek, M. (2001). SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. Journal of applied genetics, 42(1), 103-8.
Piekutowska-Abramczuk, D, et al. "SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome." Journal of applied genetics vol. 42,1 (2001): 103-8.
Piekutowska-Abramczuk D, Popowska E, Pronicka E, Karczmarewicz E, Pronicki M, Kmieć T, Krajewska-Walasek M. SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. J Appl Genet. 2001;42(1):103-8. PMID: 14564068.
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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Human mutation

Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R, Claeys KG, Ciara E, Eisen J, Płoski R, Pronicka E, Malczyk K, Wagner M, Wortmann SB, Prokisch H.
PMID: 33348459
Hum Mutat. 2021 Mar;42(3):310-319. doi: 10.1002/humu.24160. Epub 2021 Jan 03.

Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients...

Cite
Stenton SL, Piekutowska-Abramczuk D, Kulterer L, et al. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum Mutat. 2021;42(3):310-319doi: 10.1002/humu.24160.
Stenton, S. L., Piekutowska-Abramczuk, D., Kulterer, L., Kopajtich, R., Claeys, K. G., Ciara, E., Eisen, J., Płoski, R., Pronicka, E., Malczyk, K., Wagner, M., Wortmann, S. B., & Prokisch, H. (2021). Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Human mutation, 42(3), 310-319. https://doi.org/10.1002/humu.24160
Stenton, Sarah L, et al. "Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance." Human mutation vol. 42,3 (2021): 310-319. doi: https://doi.org/10.1002/humu.24160
Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R, Claeys KG, Ciara E, Eisen J, Płoski R, Pronicka E, Malczyk K, Wagner M, Wortmann SB, Prokisch H. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum Mutat. 2021 Mar;42(3):310-319. doi: 10.1002/humu.24160. Epub 2021 Jan 03. PMID: 33348459.
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The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy.

Journal of clinical medicine

Ziółkowska L, Mazurkiewicz Ł, Petryka J, Kowalczyk-Domagała M, Boruc A, Bieganowska K, Ciara E, Piekutowska-Abramczuk D, Śpiewak M, Miśko J, Marczak M, Brzezińska-Rajszys G.
PMID: 33567718
J Clin Med. 2021 Feb 08;10(4). doi: 10.3390/jcm10040650.

INTRODUCTION: The most efficient risk stratification algorithms are expected to deliver robust and indefectible identification of high-risk children with hypertrophic cardiomyopathy (HCM). Here we compare algorithms for risk stratification in primary prevention in HCM children and investigate whether novel...

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Ziółkowska L, Mazurkiewicz Ł, Petryka J, et al. The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy. J Clin Med. 2021;10(4)doi: 10.3390/jcm10040650.
Ziółkowska, L., Mazurkiewicz, �. �., Petryka, J., Kowalczyk-Domagała, M., Boruc, A., Bieganowska, K., Ciara, E., Piekutowska-Abramczuk, D., Śpiewak, M., Miśko, J., Marczak, M., & Brzezińska-Rajszys, G. (2021). The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy. Journal of clinical medicine, 10(4), . https://doi.org/10.3390/jcm10040650
Ziółkowska, Lidia, et al. "The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy." Journal of clinical medicine vol. 10,4 (2021). doi: https://doi.org/10.3390/jcm10040650
Ziółkowska L, Mazurkiewicz Ł, Petryka J, Kowalczyk-Domagała M, Boruc A, Bieganowska K, Ciara E, Piekutowska-Abramczuk D, Śpiewak M, Miśko J, Marczak M, Brzezińska-Rajszys G. The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy. J Clin Med. 2021 Feb 08;10(4). doi: 10.3390/jcm10040650. PMID: 33567718; PMCID: PMC7915130.
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Tyrosinemia type III in an asymptomatic girl.

Molecular genetics and metabolism reports

Szymanska E, Sredzinska M, Ciara E, Piekutowska-Abramczuk D, Ploski R, Rokicki D, Tylki-Szymanska A.
PMID: 28649543
Mol Genet Metab Rep. 2015 Oct 22;5:48-50. doi: 10.1016/j.ymgmr.2015.10.004. eCollection 2015 Dec.

Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the

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Szymanska E, Sredzinska M, Ciara E, et al. Tyrosinemia type III in an asymptomatic girl. Mol Genet Metab Rep. 2015;5:48-50doi: 10.1016/j.ymgmr.2015.10.004.
Szymanska, E., Sredzinska, M., Ciara, E., Piekutowska-Abramczuk, D., Ploski, R., Rokicki, D., & Tylki-Szymanska, A. (2015). Tyrosinemia type III in an asymptomatic girl. Molecular genetics and metabolism reports, 548-50. https://doi.org/10.1016/j.ymgmr.2015.10.004
Szymanska, Edyta, et al. "Tyrosinemia type III in an asymptomatic girl." Molecular genetics and metabolism reports vol. 5 (2015): 48-50. doi: https://doi.org/10.1016/j.ymgmr.2015.10.004
Szymanska E, Sredzinska M, Ciara E, Piekutowska-Abramczuk D, Ploski R, Rokicki D, Tylki-Szymanska A. Tyrosinemia type III in an asymptomatic girl. Mol Genet Metab Rep. 2015 Oct 22;5:48-50. doi: 10.1016/j.ymgmr.2015.10.004. eCollection 2015 Dec. PMID: 28649543; PMCID: PMC5471395.
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