Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Avraham Zeharia"'
Autor:
Dror Kraus, Huda Abdelrahim, Orith Waisbourd-Zinman, Elena Domin, Avraham Zeharia, Orna Staretz-Chacham
Publikováno v:
Children, Vol 9, Iss 4, p 545 (2022)
Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alph
Externí odkaz:
https://doaj.org/article/d4860e2f17844d8caed59717570c880b
Autor:
Hava Peretz, Ayala Lagziel, Florian Bittner, Mustafa Kabha, Meirav Shtauber-Naamati, Vicki Zhuravel, Sali Usher, Steffen Rump, Silke Wollers, Bettina Bork, Hanna Mandel, Tzipora Falik-Zaccai, Limor Kalfon, Juergen Graessler, Avraham Zeharia, Nasser Heib, Hannah Shalev, Daniel Landau, David Levartovsky
Publikováno v:
Biomedicines, Vol 9, Iss 7, p 788 (2021)
Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the
Externí odkaz:
https://doaj.org/article/39f61b1380a64273a9863f181879c35b
Autor:
Tal Eidlitz-Markus, Avraham Zeharia
Publikováno v:
The Journal of Headache and Pain, Vol 18, Iss 1, Pp 1-7 (2017)
Abstract Background The available data on gender differences in clinical migraine parameters among pediatric patients are based on relatively few studies, which did not use the current version of the International Classification of Headache Disorders
Externí odkaz:
https://doaj.org/article/a862a5b2c00f47f08ce69ce9ccb65f91
Autor:
Doron M. Behar, Lina Basel-Vanagaite, Fabian Glaser, Marielle Kaplan, Shay Tzur, Nurit Magal, Tal Eidlitz-Markus, Yishay Haimi-Cohen, Galit Sarig, Concetta Bormans, Mordechai Shohat, Avraham Zeharia
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 2, Pp 307-312 (2014)
Congenital pancreatic lipase (PNLIP) deficiency is a rare monoenzymatic form of exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state o
Externí odkaz:
https://doaj.org/article/136cc1f21a804f50adb5be8f6ad38c9b
Autor:
Yishai Haimi Cohen, Jacob Amir, Shai Ashkenazi, Tal Eidlitz-Markus, Zmira Samra, Lea Kaufmann, Avraham Zeharia
Publikováno v:
Emerging Infectious Diseases, Vol 14, Iss 9, Pp 1437-1439 (2008)
The database of a major microbiology laboratory in Israel was searched to determine the prevalence of nontuberculous mycobacterial lymphadenitis in immunocompetent children. We observed a 4-fold increase in nontuberculous mycobacteria isolates during
Externí odkaz:
https://doaj.org/article/1751c7e684954463aeb0b602e5458c8e
Autor:
Ayala Lagziel, Avraham Zeharia, Sali Usher, Mustafa Kabha, Nasser Heib, David Levartovsky, Limor Kalfon, Hava Peretz, Bettina Bork, Daniel Landau, Tzipora C Falik-Zaccai, Juergen Graessler, Florian Bittner, Vicki Zhuravel, Silke Wollers, Hannah Shalev, Hanna Mandel, Meirav Shtauber-Naamati, Steffen Rump
Publikováno v:
Biomedicines, Vol 9, Iss 788, p 788 (2021)
Biomedicines
Volume 9
Issue 7
Biomedicines
Volume 9
Issue 7
Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2d2424bf74fad899664a3fa013befc
https://www.mdpi.com/2227-9059/9/7/788
https://www.mdpi.com/2227-9059/9/7/788
Publikováno v:
European Journal of Pediatrics. 177:1389-1393
We investigated the prevalence of Mycobacterium marinum lymphadenitis and describe 4 children with the disease. The database of the microbiology laboratory of a tertiary pediatric medical center was searched for all cases of nontuberculous mycobacter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe0dfb8a4ad5cb7cd406a92c22ee9d9
https://doi.org/10.1007/s00431-018-3102-5
https://doi.org/10.1007/s00431-018-3102-5
Autor:
Ben Pode-Shakked, Adi Aran, Richard P. Lifton, Friedhelm Hildebrandt, Jing Chen, Omer Bar-Yosef, Shirlee Shril, Avraham Zeharia, Yair Anikster, Johanna Magdalena Schmidt, Yuval Landau, Reeval Segel, Nina Mann, Amelie T. van der Ven, Hadas Ityel, Annick Raas-Rothschild, Orna Staretz-Chacham, Asaf Vivante
Publikováno v:
Pediatric Nephrology. 32:2273-2282
Rhabdomyolysis is a clinical emergency that may cause acute kidney injury (AKI). It can be acquired or due to monogenic mutations. Around 60 different rare monogenic forms of rhabdomyolysis have been reported to date. In the clinical setting, identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5efd13b5eb588dd6c1f91a8eb699c5
https://doi.org/10.1007/s00467-017-3755-8
https://doi.org/10.1007/s00467-017-3755-8
Publikováno v:
Journal of child neurology. 34(13)
Hypercoagulability may explain the increased risk of thromboembolic cerebrovascular events in patients with migraine. Thrombocytes play a crucial part in the coagulation process, and some studies have demonstrated hyperaggregation of thrombocytes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f5f3134fb22aafe759058445468c34
https://pubmed.ncbi.nlm.nih.gov/31319753
https://pubmed.ncbi.nlm.nih.gov/31319753
Autor:
Ann Saada, Avraham Zeharia, Osnat Konen, Orly Elpeleg, Jonathan R. Friedman, Ana Tobar, Avraham Shaag, Yacov Fellig, Jodi Nunnari
Publikováno v:
European Journal of Human Genetics. 24:1778-1782
The mitochondrial inner membrane possesses distinct subdomains including cristae, which are lamellar structures invaginated into the mitochondrial matrix and contain the respiratory complexes. Generation of inner membrane domains requires the complex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d80c8cc2b90a5a1ed4657080eee59de
https://doi.org/10.1038/ejhg.2016.83
https://doi.org/10.1038/ejhg.2016.83