Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Stanley H, Korman"'
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:
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:
Spyros, Batzios, Galit, Tal, Andrew T, DiStasio, Yanyan, Peng, Christiana, Charalambous, Paola, Nicolaides, Erik-Jan, Kamsteeg, Stanley H, Korman, Hanna, Mandel, Peter J, Steinbach, Ling, Yi, Summer R, Fair, Mark E, Hester, Anthi, Drousiotou, Stephen G, Kaler
Publikováno v:
Human Molecular Genetics. 31:4121-4130
The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype–phenotype correlations have previously been reported. We describe identical twin male infants homozygous for a novel missense varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b746f24ea60c92475c8e98970568515
https://doi.org/10.1093/hmg/ddac156
https://doi.org/10.1093/hmg/ddac156
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
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
Publikováno v:
Clinical Chemistry. 64:978-980
A 50-year-old man with long-standing Crohn disease underwent metabolic investigation as part of evaluation for subacute cognitive decline and confusional state. An infected ulcer present on his left foot for several months was suspected to be pyoderm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa9161811fe8ced9fd505682e00971c
https://doi.org/10.1373/clinchem.2018.286617
https://doi.org/10.1373/clinchem.2018.286617
Autor:
Avraham Shaag, Suha Daas, Elon Pras, Ben Pode-Shakked, Smadar Abraham, Talya Saraf-Levy, Naomi Pode-Shakked, Shlomo Almashanu, Yuval Landau, Stanley H Korman, Haike Reznik-Wolf, Katya Kneller, Asaf Vivante, Yair Anikster, Igor Ulanovsky
Publikováno v:
European Journal of Medical Genetics. 63:103901
Background Maple syrup urine disease is a rare autosomal-recessive aminoacidopathy, caused by deficient branched-chain 2-keto acid dehydrogenase (BCKD), with subsequent accumulation of branched-chain amino acids (BCAAs): leucine, isoleucine and valin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29a345b2ac5ec1aa7544bc3cbfd71bb0
https://doi.org/10.1016/j.ejmg.2020.103901
https://doi.org/10.1016/j.ejmg.2020.103901
Autor:
Lital Adler, Noa Stettner, Shani Agron, David Dimmock, Shalev Itzkovitz, Daniel Helbling, Qin Sun, Alexander Brandis, Ayelet Erez, Eytan Ruppin, Alona Sarver, Shiran Rabinovich, Stanley H. Korman, Sandesh C.S. Nagamani, Keren Yizhak, Igor Ulitsky, Alon Silberman
Publikováno v:
Nature
Cancer cells hijack and remodel existing metabolic pathways for their benefit. Argininosuccinate synthase (ASS1) is a urea cycle enzyme that is essential in the conversion of nitrogen from ammonia and aspartate to urea. A decrease in nitrogen flux th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e8de51e33226e8df183a26a94d9188
https://doi.org/10.1038/nature15529
https://doi.org/10.1038/nature15529
Autor:
Orly Elpeleg, Eli Hershkovitz, Morad Khayat, Stanley H. Korman, Hanna Mandel, Ronen Spiegel, Stavit A. Shalev, Yoseph Horovitz, Avraham Shaag, Ido Yatsiv, Flora Barghuti, Ann Saada
Publikováno v:
Journal of Medical Genetics. 48:177-182
Background The TMEM70 gene defect was recently identified as a novel cause of autosomal recessive ATP synthase deficiency. Most of the 28 patients with TMEM70 disorder reported to date display a distinctive phenotype characterised by neonatal onset o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290b1d210b1fb3d9fd155d30b525492d
https://doi.org/10.1136/jmg.2010.084608
https://doi.org/10.1136/jmg.2010.084608