Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Anastasia Fedick, Orly Elpeleg, Jae Kyo Yi, Elisheva Kleinman, Chaim Jalas, Justin Snider, Nathan R. Treff, Simon Edvardson, Ruijuan Xu, Cungui Mao, Bryn D. Webb
Publikováno v:
Journal of Medical Genetics. 53:389-396
Background/aims Leukodystrophies due to abnormal production of myelin cause extensive morbidity in early life; their genetic background is still largely unknown. We aimed at reaching a molecular diagnosis in Ashkenazi-Jewish patients who suffered fro
Autor:
Orly Elpeleg, Hao Fan, Amaury Cazenave-Gassiot, David L. Silver, Tamar Harel, Dorit Shmueli, Itai Berger, Markus R. Wenk, Shimon Edvardson, Debra Q Y Quek, Avraham Shaag, Bernice H. Wong
Publikováno v:
Neurogenetics. 19(4)
The major facilitator superfamily domain-containing protein 2A (MFSD2A) is a constituent of the blood-brain barrier and functions to transport lysophosphatidylcholines (LPCs) into the central nervous system. LPCs such as that derived from docosahexan
Autor:
Orly Elpeleg, Ayelet Eran, Yoshio Hirabayashi, David Savitzki, Hanna Mandel, Galit Tal, Yasuhiro Horibata, Hiroyuki Sugimoto
Publikováno v:
Journal of Lipid Research, Vol 59, Iss 6, Pp 1015-1026 (2018)
Ethanolamine phosphotransferase (EPT)1, also known as selenoprotein 1 (SELENOI), is an enzyme that transfers phosphoethanolamine from cytidine diphosphate-ethanolamine to lipid acceptors to produce ethanolamine glycerophospholipids, such as diacyl-li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c4c397df043d3d876fe21211cfbee2e
https://europepmc.org/articles/PMC5983406/
https://europepmc.org/articles/PMC5983406/
Autor:
Saul J. Karpen, Paul A. Dawson, Bassam Abu-Libdeh, Anuradha Rao, Orly Elpeleg, Frédéric M. Vaz, Mutaz Sultan
Publikováno v:
Hepatology (Baltimore, Md.), 68(2), 590-598. John Wiley and Sons Ltd
Primary bile acid malabsorption (PBAM) is associated with congenital diarrhea, steatorrhea, and a block in the intestinal return of bile acids in the enterohepatic circulation. Mutations in the ileal Na+-dependent bile acid transporter (ASBT; SLC10A2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c064b8bd9aa7fa471970f1ee4751d3
https://pure.amc.nl/en/publications/organic-solute-transporterbeta-slc51b-deficiency-in-two-brothers-with-congenital-diarrhea-and-features-of-cholestasis(e698352e-a2e3-44eb-9834-ae63040913f9).html
https://pure.amc.nl/en/publications/organic-solute-transporterbeta-slc51b-deficiency-in-two-brothers-with-congenital-diarrhea-and-features-of-cholestasis(e698352e-a2e3-44eb-9834-ae63040913f9).html
Autor:
Yoav Zehavi, Avraham Shaag, Sarit Ravid, Ronen Spiegel, Hanna Mandel, Erwin E. W. Jansen, Orly Elpeleg, Ayelet Eran, Muhammad Abu Rashid, Ann Saada, Mirjam M.C. Wamelink
Publikováno v:
METABOLIC BRAIN DISEASE, 34(2), 557-563. Springer New York
Zehavi, Y, Mandel, H, Eran, A, Ravid, S, Abu Rashid, M, Jansen, E E W, Wamelink, M M C, Saada, A, Shaag, A, Elpeleg, O & Spiegel, R 2019, ' Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review ', METABOLIC BRAIN DISEASE, vol. 34, no. 2, pp. 557-563 . https://doi.org/10.1007/s11011-019-0384-x
Zehavi, Y, Mandel, H, Eran, A, Ravid, S, Abu Rashid, M, Jansen, E E W, Wamelink, M M C, Saada, A, Shaag, A, Elpeleg, O & Spiegel, R 2019, ' Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review ', METABOLIC BRAIN DISEASE, vol. 34, no. 2, pp. 557-563 . https://doi.org/10.1007/s11011-019-0384-x
D-glycerate 2 kinase (DGK) is an enzyme that mediates the conversion of D-glycerate, an intermediate metabolite of serine and fructose metabolism, to 2-phosphoglycerate. Deficiency of DGK leads to accumulation of D-glycerate in various tissues and it
Autor:
Barak Yaacov, Ruth Sheffer, Vardiella Meiner, Moshe Gomori, Marion Werner, Duha Fahham, Orly Elpeleg, Irene Anteby, Ayala Frumkin, Odeya Bennett-Back, Simon Edvardson
Publikováno v:
neurogenetics. 16:23-26
Hindbrain malformations with predominant cerebellar involvement have many causes including chromosomal disorders, specific genetic syndromes, and prenatal disruptions. The combination of a hindbrain malformation and myoclonic epilepsy is rare. Using
Autor:
Shimrit Oz, Nathan Dascal, Fida Aziz Abulhijaa, Shamir Zenvirt, Orly Elpeleg, Avraham Shaag, Flora Barghouthi Taher, Simon Edvardson
Publikováno v:
Journal of Medical Genetics. 50:118-123
Background Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has b
Autor:
Klaus H. Kaestner, Itai Berger, Talia Dor-Wolman, Annick Raas-Rothschild, M. Nadjari, Ziva Ben-Neriah, Avraham Shaag, Shamir Zenvirt, Orly Elpeleg, Ann Saada
Publikováno v:
Molecular Genetics and Metabolism. 104:517-520
The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there
Autor:
Abdulasalam Abu Libdeh, Israela Lerer, Orly Elpeleg, Abraham Zlotogorski, Valentina Broshtilova, Vered Molho-Pessach, Ziad Agha, Dvorah Abeliovich
Publikováno v:
The American Journal of Human Genetics. 83(4):529-534
The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contract
Autor:
Dorit Lev, Alexander Lossos, Jerry Vockley, Tally Lerman-Sagie, Esther Leshinsky-Silver, Charles R. Roe, Stanley H. Korman, Anne Marie Lamhonwah, Ingrid Tein, Dietrich Matern, Niels Gregersen, Bruria Ben-Zeev, Orly Elpeleg, Gerard T. Berry
Publikováno v:
Molecular Genetics and Metabolism. 93:179-189
We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish o