Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Katya Kneller"'
Autor:
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi, Orna Staretz-Chacham
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Abstract Background Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals suf
Externí odkaz:
https://doaj.org/article/8b5cbfe869724833b439ca921dcf05fd
Autor:
Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Nadirah S. Damseh, Elena Dumin, Aviva Fattal‐Valevski, Tzipora C. Falik‐Zaccai, Clair Habib, Sagi Josefsberg, Stanley H. Korman, Katya Kneller, Yuval Landau, Tally Lerman‐Sagie, Hanna Mandel, Yehoshua Manor, Tameemi Moady Abdalla, Rachel Rock, Nira Rostami, Ann Saada, Talya Saraf‐Levy, Nava Shaul Lotan, Ronen Spiegel, Orna Staretz‐Chacham, Galit Tal, Igor Ulanovsky, Taly Vaisid, Yael Wilnai, Shlomo Almashanu
Publikováno v:
Journal of Inherited Metabolic Disease. 46:232-242
Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose-1-phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc3d2239632aeea3f17773ddbdf4927c
https://doi.org/10.1002/jimd.12580
https://doi.org/10.1002/jimd.12580
Autor:
Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768b402852aaa9ae171798302180500a
https://research.rug.nl/en/publications/2c098ef6-f19a-4318-89ba-1f1b7f93649b
https://research.rug.nl/en/publications/2c098ef6-f19a-4318-89ba-1f1b7f93649b
Autor:
Annick Raas-Rothschild, Guy Hazan, Galina Ling, Yoav Zehavi, Ben Pode-Shakked, Eli Hershkovitz, Eyal Kristal, Ronen Spiegel, Eilon Shany, Odeya David, Yair Anikster, Yuval Landau, Katya Kneller, Orna Staretz-Chacham, Ehud Banne
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Background Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals suffer from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd105b2d12acbf8ff2fed783ec84055b
https://doi.org/10.1186/s13023-021-02007-9
https://doi.org/10.1186/s13023-021-02007-9
Autor:
Shiri Liber, Orna Staretz-Chacham, Mor Kishon, Ben Pode-Shakked, Odelia Chorin, Katya Kneller, Yair Anikster, Geto Mangisto, Ann Saada, Annick Raas-Rothschild
Publikováno v:
Mol Syndromol
Sanfilippo Syndrome, or mucopolysaccharidosis type III (MPS III), is a group of autosomal-recessive lysosomal storage disorders leading to tissue accumulation of heparan sulfate. MPS III is caused by deficiency in one of 4 enzymes involved in lysosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb8da7e1b7dd2e23d09d181f69956e1e
https://pubmed.ncbi.nlm.nih.gov/35221874
https://pubmed.ncbi.nlm.nih.gov/35221874
Autor:
Avraham Shaag, Suha Daas, Elon Pras, Ben Pode-Shakked, Smadar Abraham, Talya Saraf-Levy, Naomi Pode-Shakked, Shlomo Almashanu, Yuval Landau, Stanley H Korman, Haike Reznik-Wolf, Katya Kneller, Asaf Vivante, Yair Anikster, Igor Ulanovsky
Publikováno v:
European Journal of Medical Genetics. 63:103901
Background Maple syrup urine disease is a rare autosomal-recessive aminoacidopathy, caused by deficient branched-chain 2-keto acid dehydrogenase (BCKD), with subsequent accumulation of branched-chain amino acids (BCAAs): leucine, isoleucine and valin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29a345b2ac5ec1aa7544bc3cbfd71bb0
https://doi.org/10.1016/j.ejmg.2020.103901
https://doi.org/10.1016/j.ejmg.2020.103901