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1.

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

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.

J Inherit Metab Dis ; 46(2): 232-242, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36515074

2.

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

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.

J Inherit Metab Dis ; 44(3): 606-617, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33190319

3.

COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

Mandel, Hanna; Cohen Kfir, Nehama; Fedida, Ayalla; Shuster Biton, Efrat; Odeh, Marwan; Kalfon, Limor; Ben-Harouch, Shani; Fleischer Sheffer, Vered; Hoffman, Yoav; Goldberg, Yael; Dinwiddie, April; Dumin, Elena; Eran, Ayelet; Apel-Sarid, Liat; Tiosano, Dov; Falik-Zaccai, Tzipora C.

Clin Genet ; 98(4): 402-407, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32683677

4.

Nuclear Compartmentalization of Serine Racemase Regulates D-Serine Production: IMPLICATIONS FOR N-METHYL-D-ASPARTATE (NMDA) RECEPTOR ACTIVATION.

Kolodney, Goren; Dumin, Elena; Safory, Hazem; Rosenberg, Dina; Mori, Hisashi; Radzishevsky, Inna; Radzishevisky, Inna; Wolosker, Herman.

J Biol Chem ; 290(52): 31037-50, 2015 Dec 25.

Artículo en Inglés | MEDLINE | ID: mdl-26553873

5.

Role of phosphorylation of Cdc20 in p31(comet)-stimulated disassembly of the mitotic checkpoint complex.

Miniowitz-Shemtov, Shirly; Eytan, Esther; Ganoth, Dvora; Sitry-Shevah, Danielle; Dumin, Elena; Hershko, Avram.

Proc Natl Acad Sci U S A ; 109(21): 8056-60, 2012 May 22.

Artículo en Inglés | MEDLINE | ID: mdl-22566641

6.

Acute Normoglycemic Ketoacidosis.

Dumin, Elena; Idin, Anna; Korman, Stanley H; Tal, Galit.

Clin Chem ; 65(12): 1610-1612, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31776163

7.

p31comet Promotes disassembly of the mitotic checkpoint complex in an ATP-dependent process.

Teichner, Adar; Eytan, Esther; Sitry-Shevah, Danielle; Miniowitz-Shemtov, Shirly; Dumin, Elena; Gromis, Jonathan; Hershko, Avram.

Proc Natl Acad Sci U S A ; 108(8): 3187-92, 2011 Feb 22.

Artículo en Inglés | MEDLINE | ID: mdl-21300909

8.

Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I.

Tal, Galit; Dar, Dalit E; Almashanu, Shlomo; Korman, Stanley H; Dumin, Elena.

Pediatr Rev ; 40(12): 639-642, 2019 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-31792048

9.

Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.

Tal, Galit; Dar, Dalit E; Idin, Anna; Korman, Stanley H; Dumin, Elena.

Clin Chem ; 64(6): 978-980, 2018 06.

Artículo en Inglés | MEDLINE | ID: mdl-29844061

10.

Hereditary orotic aciduria identified by newborn screening.

Staretz-Chacham, Orna; Damseh, Nadirah S; Daas, Suha; Abu Salah, Nasser; 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; Shaul Lotan, Nava; Spiegel, Ronen; Tal, Galit; Ulanovsky, Igor; Wilnai, Yael; Korman, Stanley H; Almashanu, Shlomo.

Front Genet ; 14: 1135267, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-36999056

11.

Nuclear compartmentalization of serine racemase regulates d-serine production. IMPLICATIONS FOR N-METHYL-d-ASPARTATE (NMDA) RECEPTOR ACTIVATION.

Kolodney, Goren; Dumin, Elena; Safory, Hazem; Rosenberg, Dina; Mori, Hisashi; Radzishevsky, Inna; Wolosker, Herman.

J Biol Chem ; 291(6): 2630, 2016 Feb 05.

Artículo en Inglés | MEDLINE | ID: mdl-26851299

12.

Feedback inactivation of D-serine synthesis by NMDA receptor-elicited translocation of serine racemase to the membrane.

Balan, Livia; Foltyn, Veronika N; Zehl, Martin; Dumin, Elena; Dikopoltsev, Elena; Knoh, Diana; Ohno, Yusuke; Kihara, Akio; Jensen, Ole N; Radzishevsky, Inna S; Wolosker, Herman.

Proc Natl Acad Sci U S A ; 106(18): 7589-94, 2009 May 05.

Artículo en Inglés | MEDLINE | ID: mdl-19380732

13.

Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.

Bar-Yoseph, Ronen; Tal, Galit; Dumin, Elena; Hanna, Moneera; Mainzer, Gur; Zucker-Toledano, Merav; Shallufi, George; Jahshan, Mira; Mandel, Hanna; Bentur, Lea.

J Pers Med ; 11(11)2021 Oct 28.

Artículo en Inglés | MEDLINE | ID: mdl-34834457

14.

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.

Hershkovitz, Tova; Kurolap, Alina; Tal, Galit; Paperna, Tamar; Mory, Adi; Staples, Jeffrey; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Dumin, Elena; Saada, Ann; Mandel, Hanna; Baris Feldman, Hagit.

Mol Genet Metab Rep ; 26: 100699, 2021 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-33457206

15.

Pilot controlled trial of D-serine for the treatment of post-traumatic stress disorder.

Heresco-Levy, Uriel; Vass, Agnes; Bloch, Boaz; Wolosker, Herman; Dumin, Elena; Balan, Livia; Deutsch, Lisa; Kremer, Ilana.

Int J Neuropsychopharmacol ; 12(9): 1275-82, 2009 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-19366490

16.

D-amino acids in the brain: D-serine in neurotransmission and neurodegeneration.

Wolosker, Herman; Dumin, Elena; Balan, Livia; Foltyn, Veronika N.

FEBS J ; 275(14): 3514-26, 2008 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-18564180

17.

Cortisol-Metabolizing Enzymes in Polycystic Ovary Syndrome.

Blumenfeld, Zeev; Kaidar, Gabi; Zuckerman-Levin, Nehama; Dumin, Elena; Knopf, Carlos; Hochberg, Ze'ev.

Clin Med Insights Reprod Health ; 10: 9-13, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-27168731

18.

Long-Term Follow-Up of Pompe Patients in Israel and Gaza: Insights into Therapeutic Effects of Enzyme Replacement Therapy.

Mandel, Hanna; Hershkovitz, Eli; Zecharia, Abraham; Lorber, Abraham; Bentur, Lea; Dumin, Elena.

J Neuromuscul Dis ; 2(s1): S65-S66, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-27858654

19.

Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience.

Dumin, Elena; Faour, Zamzam; Knopf, Carlos; Spiegel, Ronen; Elisha, Mordechai Ben; Kaplan, Marielle; Mandel, Hanna.

J Neuromuscul Dis ; 2(s1): S40, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-27858634

20.

Neuron-derived D-serine release provides a novel means to activate N-methyl-D-aspartate receptors.

Kartvelishvily, Elena; Shleper, Maria; Balan, Livia; Dumin, Elena; Wolosker, Herman.

J Biol Chem ; 281(20): 14151-62, 2006 May 19.

Artículo en Inglés | MEDLINE | ID: mdl-16551623

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