Výsledky vyhledávání - "Hannah Shalev"

Akademický článek

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt

Autor: Hava Peretz, Michael Korostishevsky, David M. Steinberg, Mustafa Kabha, Sali Usher, Irit Krause, Hannah Shalev, Daniel Landau, David Levartovsky

Publikováno v: JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)

Abstract Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underli

Externí odkaz: https://doaj.org/article/4b3823acbf6f42c58b33cb8b0c6f9357

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Akademický článek

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

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

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Akademický článek

Pediatric chronic kidney disease rates in Southern Israel are higher than reported [v1; ref status: indexed, http://f1000r.es/1gf]

Autor: Daniel Landau, Ruth Schreiber, Anya Kleinman, Alina Vodonos, Hannah Shalev

Publikováno v: F1000Research, Vol 2 (2013)

Background: The incidence and prevalence of pediatric chronic kidney disease (p-CKD) in developed countries has previously been estimated to be 12 and 75 cases/106 population respectively, much lower than reports in young adults (age 20-40) (40,000/1

Externí odkaz: https://doaj.org/article/b5514f27688743ed80cb3201215f445e

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Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2d2424bf74fad899664a3fa013befc
https://www.mdpi.com/2227-9059/9/7/788

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An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt

Autor: Daniel Landau, David M. Steinberg, Hava Peretz, Michael Korostishevsky, Sali Usher, David Levartovsky, Mustafa Kabha, Irit Krause, Hannah Shalev

Publikováno v: JIMD Reports
JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)

Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underlie classic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::942377d4453654b8eaeb2e3ede1af34a
https://doi.org/10.1002/jmd2.12077

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Accentuated hyperparathyroidism in type II Bartter syndrome

Autor: Levana Sinai-Treiman, Hannah Shalev, Daniel Landau, Evgenia Gurevich

Publikováno v: Pediatric nephrology (Berlin, Germany). 31(7)

Bartter syndrome (BS) may be associated with different degrees of hypercalciuria, but marked parathyroid hormone (PTH) abnormalities have not been described. We compared clinical and laboratory data of patients with either ROMK-deficient type II BS (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af2dddf4ea0fb8db761f3140bb7e70d4
https://pubmed.ncbi.nlm.nih.gov/26857709

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A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred

Autor: Daniella Landau, Ohad S. Birk, David Cohen, M Zeigler, Baruch Yerushalmi, V Pinsk, Hannah Shalev

Publikováno v: Molecular Genetics and Metabolism. 82:167-172

Four members of an extended consanguineous Bedouin family presented with different phenotypic variants of an autosomal recessive lysosomal free sialic acid storage disease. One affected individual had congenital ascites followed by rapid clinical det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8007c00a504d22abd4a0a57da538fa5e
https://doi.org/10.1016/j.ymgme.2004.03.005

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Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III

Autor: Hannah Shalev, Ewa Zdebska, Ewa Gołaszewska, Herbert Sandström, Hannah Tamary, Jadwiga Fabijańska-Mitek, Anders Wahlin, Harry Schachter, Jerzy Kościelak

Publikováno v: British Journal of Haematology. 114:907-913

Congenital dyserythropoietic anaemia type II (CDA II) is well known for glycosylation abnormalities affecting erythrocyte membrane glycoconjugates that encompass hypoglycosylation of band 3 glycoprotein and accumulation of glycosphingolipids: lactotr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a9397fae448f927116bea7f5e97f4d3
https://doi.org/10.1046/j.1365-2141.2001.03046.x

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Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation

Autor: Ilan Shelef, Ohad S. Birk, Iris Noyman, Sara Sivan, Hannah Shalev, Barak Markus, Miora Feinstein, Shareef Khateeb, Zamir Shorer, Hagit Flusser, Idan Cohen, Keren Liani-Leibson

Publikováno v: American journal of human genetics. 87(6)

Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by PLP1 mutations. A similar autosomal-recessive phenotype, Pelizaeus-Merzbacher-like disease (PMLD), has been shown to be caused by homozygous mutations in GJC2 or HSP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a94460379e33330c614e64bb602eccea
https://pubmed.ncbi.nlm.nih.gov/21397067

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Upper airway obstruction-related sleep apnea in a child with thalassemia intermedia

Autor: Hannah Tamary, Asher Moser, Hannah Shalev, Hannah Schulman, Josef Kapelushnik

Publikováno v: Journal of pediatric hematology/oncology. 23(8)

Obstructive sleep apnea can be caused by hypertrophy of tonsils and adenoids or neuromuscular diseases. The authors describe a child with thalassemia intermedia in whom severe obstructive sleep apnea syndrome developed. Computed tomography scanning r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9089d4567fff38f20067455d188768f3
https://pubmed.ncbi.nlm.nih.gov/11878781

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