Publications by authors named "Elena Dumin"

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Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rachel Rock, Oded Rock, Suha Daas, Vered Biton-Regev, Nadav Sagiv, Elena Dumin

J Inherit Metab Dis· January 2025

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Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Nadirah S Damseh, Elena Dumin

J Inherit Metab Dis· March 2023

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Hereditary orotic aciduria identified by newborn screening.
Orna Staretz-Chacham, Nadirah S Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Elena Dumin

Front Genet· March 2023

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Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.
Ronen Bar-Yoseph, Galit Tal, Elena Dumin, Moneera Hanna, Gur Mainzer

J Pers Med· October 2021

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Orna Staretz-Chacham, Suha Daas, Igor Ulanovsky, Ayala Blau, Nira Rostami, Elena Dumin

J Inherit Metab Dis· May 2021

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A recurring pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.
Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Elena Dumin

Mol Genet Metab Rep· March 2021

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COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
Hanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, Efrat Shuster Biton, Marwan Odeh, Elena Dumin

Clin Genet· October 2020

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Acute Normoglycemic Ketoacidosis.
Elena Dumin, Anna Idin, Stanley H Korman, Galit Tal

Clin Chem· December 2019

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Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I.
Galit Tal, Dalit E Dar, Shlomo Almashanu, Stanley H Korman, Elena Dumin

Pediatr Rev· December 2019

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Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.
Galit Tal, Dalit E Dar, Anna Idin, Stanley H Korman, Elena Dumin

Clin Chem· June 2018

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Cortisol-Metabolizing Enzymes in Polycystic Ovary Syndrome.
Zeev Blumenfeld, Gabi Kaidar, Nehama Zuckerman-Levin, Elena Dumin, Carlos Knopf

Clin Med Insights Reprod Health· May 2016

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Nuclear compartmentalization of serine racemase regulates d-serine production. IMPLICATIONS FOR N-METHYL-d-ASPARTATE (NMDA) RECEPTOR ACTIVATION.
Goren Kolodney, Elena Dumin, Hazem Safory, Dina Rosenberg, Hisashi Mori

J Biol Chem· February 2016

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Nuclear Compartmentalization of Serine Racemase Regulates D-Serine Production: IMPLICATIONS FOR N-METHYL-D-ASPARTATE (NMDA) RECEPTOR ACTIVATION.
Goren Kolodney, Elena Dumin, Hazem Safory, Dina Rosenberg, Hisashi Mori

J Biol Chem· December 2015

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Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience.
Elena Dumin, Zamzam Faour, Carlos Knopf, Ronen Spiegel, Mordechai Ben Elisha

J Neuromuscul Dis· January 2015

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Long-Term Follow-Up of Pompe Patients in Israel and Gaza: Insights into Therapeutic Effects of Enzyme Replacement Therapy.
Hanna Mandel, Eli Hershkovitz, Abraham Zecharia, Abraham Lorber, Lea Bentur, Elena Dumin

J Neuromuscul Dis· January 2015

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Role of phosphorylation of Cdc20 in p31(comet)-stimulated disassembly of the mitotic checkpoint complex.
Shirly Miniowitz-Shemtov, Esther Eytan, Dvora Ganoth, Danielle Sitry-Shevah, Elena Dumin

Proc Natl Acad Sci U S A· May 2012

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p31comet Promotes disassembly of the mitotic checkpoint complex in an ATP-dependent process.
Adar Teichner, Esther Eytan, Danielle Sitry-Shevah, Shirly Miniowitz-Shemtov, Elena Dumin

Proc Natl Acad Sci U S A· February 2011

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Pilot controlled trial of D-serine for the treatment of post-traumatic stress disorder.
Uriel Heresco-Levy, Agnes Vass, Boaz Bloch, Herman Wolosker, Elena Dumin

Int J Neuropsychopharmacol· October 2009

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Feedback inactivation of D-serine synthesis by NMDA receptor-elicited translocation of serine racemase to the membrane.
Livia Balan, Veronika N Foltyn, Martin Zehl, Elena Dumin, Elena Dikopoltsev

Proc Natl Acad Sci U S A· May 2009

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D-amino acids in the brain: D-serine in neurotransmission and neurodegeneration.
Herman Wolosker, Elena Dumin, Livia Balan, Veronika N Foltyn

FEBS J· July 2008

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Modulation of D-serine levels via ubiquitin-dependent proteasomal degradation of serine racemase.
Elena Dumin, Inna Bendikov, Veronika N Foltyn, Yoshio Misumi, Yukio Ikehara

J Biol Chem· July 2006

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Neuron-derived D-serine release provides a novel means to activate N-methyl-D-aspartate receptors.
Elena Kartvelishvily, Maria Shleper, Livia Balan, Elena Dumin, Herman Wolosker

J Biol Chem· May 2006

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Serine racemase modulates intracellular D-serine levels through an alpha,beta-elimination activity.
Veronika N Foltyn, Inna Bendikov, Joari De Miranda, Rogerio Panizzutti, Elena Dumin

J Biol Chem· January 2005

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