Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Elena, Dumin"'
Autor:
Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabil
Externí odkaz:
https://doaj.org/article/a4eeec32a8884c4395e424f817425fe1
Autor:
Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100699- (2021)
Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; FeS assembly and distribution is performed via multi-step pathways. Variants affecting
Externí odkaz:
https://doaj.org/article/f079a3ffc9ef481eab1415a8fe09e5b2
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:
Zeev Blumenfeld, Gabi Kaidar, Nehama Zuckerman-Levin, Elena Dumin, Carlos Knopf, Ze’ev Hochberg
Publikováno v:
Clinical Medicine Insights: Reproductive Health, Vol 2016, Iss 10, Pp 9-13 (2016)
Externí odkaz:
https://doaj.org/article/b0e332a62e134a558fb3250b8cf667d7
Autor:
Naama Yosha-Orpaz, Hatem Khammash, Shlomo Almashanu, Hanna Mandel, Ronella Marom, Ben Pode-Shakked, Avraham Shaag, Taly Vaisid, Avi Zeharia, Dror Mandel, Ayala Blau, Ronen Spiegel, Ann Saada, Eli Hershkovitz, Erez Nadir, Iris Morag, Talya Saraf-Levy, Suha Daas, Nava Shaul Lotan, Rimona Keidar, Yair Anikster, Reeval Segel, Elena Dumin, Galit Tal, Sagi Ben Yehoshua Josefsberg, Elon Pras, Nira Rostami, Tally Lerman-Sagie, Nasser Abu Salah, Tzipora C. Falik-Zaccai, Haike Reznik-Wolf, Ehud Banne, Orna Staretz-Chacham, Yuval Landau, Aviva Fattal-Valevski, Stanley H Korman, Igor Ulanovsky, Dalit E. Dar
Publikováno v:
Journal of Inherited Metabolic Disease. 44:606-617
Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life-threatening diseases with a broad clinical spectrum. Early diagnosis and initiation of treatment based on a newborn screening (NBS) test for OTCD with high specificity and sensiti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5602d8e7cf9d88585617be69240958e1
https://doi.org/10.1002/jimd.12331
https://doi.org/10.1002/jimd.12331
Publikováno v:
Clinical Chemistry. 65:1610-1612
A previously healthy 4-year-old boy presented with drowsiness and Kussmaul respiration following 2 days of abdominal pain, anorexia, and repeated vomiting. Venous blood pH was 7.07 (reference interval, 7.33–7.44); pCO2, 24 mm Hg (reference interval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b29036d3a494f394a85986933af178f
https://doi.org/10.1373/clinchem.2019.309062
https://doi.org/10.1373/clinchem.2019.309062
Autor:
Tova, Hershkovitz, Alina, Kurolap, Galit, Tal, Tamar, Paperna, Adi, Mory, Jeffrey, Staples, Karlla W, Brigatti, Claudia, Gonzaga-Jauregui, Elena, Dumin, Ann, Saada, Hanna, Mandel, Hagit, Baris Feldman
Publikováno v:
Molecular Genetics and Metabolism Reports
Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; Fe—S assembly and distribution is performed via multi-step pathways. Variants affecting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54525062c73b7b4371330eb7a84c4c87
https://pubmed.ncbi.nlm.nih.gov/33457206
https://pubmed.ncbi.nlm.nih.gov/33457206
Autor:
Ayelet Eran, Dov Tiosano, Elena Dumin, Efrat Shuster Biton, Hanna Mandel, Yoav Hoffman, Ayalla Fedida, Limor Kalfon, Yael Goldberg, Shani Ben Harouch, Marwan Odeh, Liat Apel‐Sarid, Vered Sheffer Fleischer, Nehama Kfir, Tzipora C. Falik-Zaccai, April Dinwiddie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b4e444a9110e23fece970cb6b29c480
https://doi.org/10.1111/cge.13816/v2/response1
https://doi.org/10.1111/cge.13816/v2/response1
Autor:
Yoav Hoffman, Tzipora C. Falik-Zaccai, Ayelet Eran, Hanna Mandel, Efrat Shuster Biton, Limor Kalfon, April Dinwiddie, Liat Apel‐Sarid, Ayalla Fedida, Elena Dumin, Marwan Odeh, Vered Fleischer Sheffer, Dov Tiosano, Nehama Cohen Kfir, Yael Goldberg, Shani Ben‐Harouch
Publikováno v:
Clinical geneticsREFERENCES. 98(4)
COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a novel hom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee01ef56ca01f23aa4f60a3fe4f4fac
https://pubmed.ncbi.nlm.nih.gov/32683677
https://pubmed.ncbi.nlm.nih.gov/32683677
Publikováno v:
Pediatrics in review. 40(12)
1. Galit Tal, MD* 2. Dalit E. Dar, PhD† 3. Shlomo Almashanu, PhD‡ 4. Stanley H. Korman, MBBS* 5. Elena Dumin, MD, PhD†,§ 1. *Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel 2. †Department of Clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e087c0f5872ecd7bde3598cb9438fae
https://pubmed.ncbi.nlm.nih.gov/31792048
https://pubmed.ncbi.nlm.nih.gov/31792048