Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Authors: Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Damseh, Nadirah S., Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora C., Habib, Clair, Josefsberg, Sagi, Korman, Stanley H., Kneller, Katya, Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Hanna, Manor, Yehoshua, Moady Abdalla, Tameemi, Rock, Rachel, Rostami, Nira, Saada, Ann, Saraf‐Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Staretz‐Chacham, Orna, Tal, Galit, Ulanovsky, Igor, Vaisid, Taly, Wilnai, Yael, Almashanu, Shlomo

Source: Journal of inherited metabolic disease. 46(2):232-242

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183658657.0x000001&indx=1&recIds=ETOCvdc_100183658657.0x000001

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Authors: Chorin, Odelia, Greenbaum, Lior, Lev-Hochberg, Shelly, Feinstein-Goren, Neta, Eliyahu, Aviva, Shani, Hagit, Pras, Elon, Weissbach, Tal, Bolkier, Yoav, Heimer, Gali, Lev, Dorit, Michelson, Marina, Regev, Miriam, Josefsberg, Sagi, Batzir, Nurit Assia, Shalata, Adel, Spiegel, Ronen, Segel, Reeval, Lobel, Orit, Abu-Libdeh, Bassam

Source: Orphanet Journal of Rare Diseases; 3/18/2025, Vol. 20 Issue 1, p1-11, 11p

Subject Terms: AUTISM spectrum disorders, DEVELOPMENTAL delay, ISRAELIS, NEURAL development, GENES, PATIENT care, PHYSICIAN practice patterns

Geographic Terms: ISRAEL

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Authors: Rock, Rachel, Rock, Oded, Daas, Suha, Biton‐Regev, Vered, Sagiv, Nadav, Salah, Nasser Abu, Anikster, Yair, Barel, Ortal, Cohen, Ronen Hady, Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora, Herskovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Kneller, Katya, Korman, Stanley H., Landau, Yuval E., Lerman‐Sagie, Tally, Mandel, Hanna

Source: Journal of Inherited Metabolic Disease; Jan2025, Vol. 48 Issue 1, p1-13, 13p

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

Authors: Staretz‐Chacham, Orna, Daas, Suha, Ulanovsky, Igor, Blau, Ayala, Rostami, Nira, Saraf‐Levy, Talya, Abu Salah, Nasser, Anikster, Yair, Banne, Ehud, Dar, Dalit, Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora, Hershkovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Keidar, Rimona, Korman, Stanley H., Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Dror, Mandel, Hanna, Marom, Ronella, Morag, Iris, Nadir, Erez, Yosha‐Orpaz, Naama, Pode‐Shakked, Ben, Pras, Elon, Reznik‐Wolf, Haike, Saada, Ann, Segel, Reeval, Shaag, Avraham, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Vaisid, Taly, Zeharia, Avi, Almashanu, Shlomo

Source: Journal of inherited metabolic disease. 44(3):606-617

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120637118.0x000001&indx=1&recIds=ETOCvdc_100120637118.0x000001

The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?

Authors: Maya, Idit, Kahana, Sarit, Agmon‐Fishman, Ifaat, Klein, Cochava, Matar, Reut, Berger, Racheli, Josefsberg, Sagi Ben Yehoshua, Shohat, Mordechai, Marom, Daphna, Basel‐Salmon, Lina, Sagi‐Dain, Lena

Source: American journal of medical genetics.Part A. 185(5):1461-1467

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124217156.0x000001&indx=1&recIds=ETOCvdc_100124217156.0x000001

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Authors: Singer, Amihood, Maya, Idit, Frumkin, Ayala, Zeligson, Sharon, Josefsberg, Sagi Ben Yehoshua, Berger, Racheli, Shachar, Shay Ben, Sagi-Dain, Lena

Source: Journal of maternal-fetal & neonatal medicine. 34(5):696-700

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122054926.0x000001&indx=1&recIds=ETOCvdc_100122054926.0x000001

Hereditary orotic aciduria identified by newborn screening.

Authors: Staretz-Chacham, Orna, Damseh, Nadirah S., Daas, Suha, Salah, Nasser Abu, Anikster, Yair, Barel, Ortal, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora C., Hershkovitz, Eli, Josefsberg, Sagi, Landau, Yuval, Lerman-Sagie, Tally, Mandel, Hanna, Rock, Rachel, Rostami, Nira, Saraf-Levy, Talya, Lotan, Nava Shaul, Spiegel, Ronen, Tal, Galit

Source: Frontiers in Genetics; 3/14/2023, Vol. 14, p1-7, 7p

Subject Terms: NEWBORN screening, OROTIC acid, FLOW injection analysis, ORGANIC acids

Management of a patient with holocarboxylase synthetase deficiency

Authors: Van Hove, Johan L.K., Josefsberg, Sagi, Freehauf, Cynthia, Thomas, Janet A., Thuy, Le Phuc, Barshop, Bruce A., Woontner, Michael, Mock, Donald M., Chiang, Pei-Wen, Spector, Elaine, Meneses-Morales, Iván, Cervantes-Roldán, Rafael, León-Del-Río, Alfonso

Source: In Molecular Genetics and Metabolism 2008 95(4):201-205

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Authors: Singer, Amihood, Maya, Idit, Frumkin, Ayala, Zeligson, Sharon, Josefsberg, Sagi Ben Yehoshua, Berger, Racheli, Shachar, Shay Ben, Sagi-Dain, Lena

Source: Journal of Maternal-Fetal & Neonatal Medicine; May2019, Vol. 32 Issue 10, p1-5, 5p

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