Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Ronen, Spiegel"'
Autor:
Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic pathogenic v
Externí odkaz:
https://doaj.org/article/6ac38c7fa9f14d61b64cd6989fb1fc29
Autor:
Yara Hussein, Utkarsh Tripathi, Ashwani Choudhary, Ritu Nayak, David Peles, Idan Rosh, Tatiana Rabinski, Jose Djamus, Gad David Vatine, Ronen Spiegel, Tali Garin-Shkolnik, Shani Stern
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of genetic variants were reported to be highly penetrant and causative of ASD.
Externí odkaz:
https://doaj.org/article/e5ef36397bbf431e8facf1bb8f22080c
Autor:
Reena Sharma, Caroline Hastings, Orna Staretz-Chacham, Julian Raiman, Martin Paucar, Ronen Spiegel, Bryan Murray, Bryan Hurst, Benny Liu, Lise Kjems, Sharon Hrynkow
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100988- (2023)
Background: Niemann-Pick disease type C (NPC) is a rare, fatal, pan-ethnic, autosomal recessive lysosomal storage disease characterized by progressive major organ failure and neurodegeneration. Preclinical studies confirmed a critical role of systemi
Externí odkaz:
https://doaj.org/article/dcd1e7dc3eca4ca693e75dfa4af44df1
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:
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:
Zufit Hexner-Erlichman, Maria Veiga-da-Cunha, Yoav Zehavi, Zahava Vadasz, Adi D. Sabag, Sameh Tatour, Ronen Spiegel
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundGlycogen storage disease type 1b (GSD1b) is an ultra-rare autosomal recessive disorder, caused by mutations in SLC37A4 gene. Affected patients present with episodes of fasting hypoglycemia and lactic acidosis, hepatomegaly, growth retardati
Externí odkaz:
https://doaj.org/article/9ddd4db544c94b418be2850a58e52445
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100893- (2022)
Infantile onset Pompe disease (IOPD) is a rare devastating disease that presents in early infancy with rapidly progressive hypertrophic cardiomyopathy, severe generalized myopathy and death within the first year of life. The emergence of enzyme repla
Externí odkaz:
https://doaj.org/article/a9f869d8a0744b229b6f4b410c6c5558
Autor:
Zufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, Morad Khayat, Haneen Jabaly-Habib, Lee S. Izhaki-Tavor, Moshe Dessau, Orly Elpeleg, Ronen Spiegel
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Cleft lip and/or cleft palate are a common group of birth defects that further classify into syndromic and non-syndromic forms. The syndromic forms are usually accompanied by additional physical or cognitive abnormalities. Isolated cleft palate syndr
Externí odkaz:
https://doaj.org/article/087cf9bd0d9e459e85e1bb186eac1b0c
Autor:
Zufit Hexner‐Erlichman, Joanne Yacobovich, Philippe Trougouboff, Moran Avraham‐Kelbert, Harel Eitam, Ronen Spiegel, Shay Yeganeh, Carina Levin
Publikováno v:
eJHaem, Vol 1, Iss 1, Pp 304-308 (2020)
Abstract Autoimmune myelofibrosis (AIMF) is an uncommon cause of myelofibrosis associated with favorable outcome. Primary AIMF, AIMF without a known systemic autoimmune disorder, has been described in adults, but never in children. Here, we present,
Externí odkaz:
https://doaj.org/article/5b8248cb7e8b47b9b4a21f451d5ab2d7
Autor:
Waheeb Sakran, Zufit Hexner-Erlichman, Ronen Spiegel, Hamed Batheesh, Raphael Halevy, Ariel Koren
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-5 (2020)
Abstract Gastroenteritis is common among children. Campylobacter jejuni is one of the main causative bacterial pathogens, together with Shigella, Salmonella and invasive Escherichia coli. Campylobacteriosis is a zoonotic, usually self-limited disease
Externí odkaz:
https://doaj.org/article/de0204269cfc4168aeb31fac7797e528