Publications by authors named "Orna Staretz-Chacham"

23 Publications

  • Page 1 of 1

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

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

J Inherit Metab Dis 2020 Nov 15. Epub 2020 Nov 15.

National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat Gan, Israel.

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November 2020

The effect of vitamin D administration on vitamin D status and respiratory morbidity in late premature infants.

Authors:
Inbal Golan-Tripto Jacob Bistritzer Neta Loewenthal Orna Staretz-Chacham Yotam Dizitzer Aviv Goldbart

Pediatr Pulmonol 2020 11 12;55(11):3080-3087. Epub 2020 Aug 12.

Department of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

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November 2020

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Authors:
Laura A Adang Lars Schlotawa Samuel Groeschel Christiane Kehrer Klaus Harzer Orna Staretz-Chacham Thiago Oliveira Silva Ida Vanessa D Schwartz Jutta Gärtner Mauricio De Castro Carrie Costin Esperanza Font Montgomery Thomas Dierks Karthikeyan Radhakrishnan Rebecca C Ahrens-Nicklas

J Inherit Metab Dis 2020 11 20;43(6):1298-1309. Epub 2020 Aug 20.

Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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November 2020

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Authors:
Orna Staretz-Chacham Iris Noyman Ohad Wormser Abed Abu Quider Guy Hazan Iris Morag Noam Hadar Kimiyo Raymond Ohad S Birk Carlos R Ferreira Arie Koifman

Clin Genet 2020 06 16;97(6):920-926. Epub 2020 Mar 16.

Genetics Institute, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.

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June 2020

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Authors:
Orna Staretz-Chacham Lars Schlotawa Ohad Wormser Inbal Golan-Tripto Ohad S Birk Carlos R Ferreira Thomas Dierks Karthikeyan Radhakrishnan

Mol Genet Genomic Med 2020 09 12;8(9):e1167. Epub 2020 Feb 12.

Biochemistry I, Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.

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September 2020

Maternal anemia and offspring failure to thrive - results from a large population-based cohort.

Authors:
Omer Kaplan Tamar Wainstock Eyal Sheiner Orna Staretz-Chacham Asnat Walfisch

J Matern Fetal Neonatal Med 2019 Dec 17:1-7. Epub 2019 Dec 17.

Department of Obstetrics and Gynecology, Soroka University Medical Center, Ben-Gurion University of the Negev, Be'er Sheva, Israel.

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December 2019

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

Authors:
Orna Staretz-Chacham Rachel Shukrun Ortal Barel Ben Pode-Shakked Oren Pleniceanu Yair Anikster Nechama Shalva Carlos R Ferreira Admit Ben-Haim Kadosh Justin Richardson Shrikant M Mane Friedhelm Hildebrandt Asaf Vivante

Am J Med Genet A 2019 10 24;179(10):2112-2118. Epub 2019 Aug 24.

Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.

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October 2019

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Authors:
Asaf Vivante Orna Staretz Chacham Shirlee Shril Ruth Schreiber Shrikant M Mane Ben Pode-Shakked Neveen A Soliman Irene Koneth Mario Schiffer Yair Anikster Friedhelm Hildebrandt

Pediatr Nephrol 2019 09 17;34(9):1607-1613. Epub 2019 Apr 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.

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September 2019

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Authors:
Orna Staretz-Chacham Ohad Wormser Esther Manor Ohad S Birk Carlos R Ferreira

Am J Med Genet A 2019 07 4;179(7):1293-1298. Epub 2019 Apr 4.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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July 2019

Pulmonary involvement in Niemann-Pick C type 1.

Authors:
Orna Staretz-Chacham M Aviram I Morag A Goldbart E Hershkovitz

Eur J Pediatr 2018 Nov 31;177(11):1609-1615. Epub 2018 Jul 31.

Pediatric Metabolic Clinic, Pediatric Division, Soroka Medical Center, Ben-Gurion University, Beersheba, Israel.

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November 2018

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Authors:
Idan Cohen Orna Staretz-Chacham Ohad Wormser Yonatan Perez Ann Saada Rotem Kadir Ohad S Birk

Am J Med Genet A 2018 02 11;176(2):330-336. Epub 2017 Dec 11.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.

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February 2018

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Authors:
Asaf Vivante Hadas Ityel Ben Pode-Shakked Jing Chen Shirlee Shril Amelie T van der Ven Nina Mann Johanna Magdalena Schmidt Reeval Segel Adi Aran Avraham Zeharia Orna Staretz-Chacham Omer Bar-Yosef Annick Raas-Rothschild Yuval E Landau Richard P Lifton Yair Anikster Friedhelm Hildebrandt

Pediatr Nephrol 2017 Dec 5;32(12):2273-2282. Epub 2017 Aug 5.

Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.

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December 2017

Inflammatory and vascular placental lesions are associated with neonatal amplitude integrated EEG recording in early premature neonates.

Authors:
Dorit Paz-Levy Letizia Schreiber Offer Erez Sharon Goshen Justin Richardson VIadimir Drunov Orna Staretz Chacham Eilon Shany

PLoS One 2017 23;12(6):e0179481. Epub 2017 Jun 23.

Department of Neonatology, Soroka University Medical Center, Faculty of Health Sciences, School of Medicine, Ben-Gurion University of the Negev, Beer Sheva, Israel.

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September 2017

Late preterm and early term: when to induce a growth restricted fetus? A population-based study.

Authors:
Alex Rabinovich Tehila Tsemach Lena Novack Moshe Mazor Tal Rafaeli-Yehudai Orna Staretz-Chacham Ruth Beer-Weisel Vered Klaitman-Mayer Salvatore A Mastrolia Offer Erez

J Matern Fetal Neonatal Med 2018 Apr 22;31(7):926-932. Epub 2017 Mar 22.

a Department of Obstetrics and Gynecology , Soroka University Medical Center, School of Medicine, Faculty of Health Sciences, Ben Gurion University of the Negev , Beer Sheva , Israel.

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April 2018

Induction of labor in twin gestation: lessons from a population based study.

Authors:
Batel Hamou Tamar Wainstock Salvatore Andrea Mastrolia Ruthy Beer-Weisel Orna Staretz-Chacham Doron Dukler Tal Rafaeli-Yehudai Moshe Mazor Offer Erez

J Matern Fetal Neonatal Med 2016 Dec 8;29(24):3999-4007. Epub 2016 Mar 8.

e Maternity Department D, Obstetrical Day Care Unit, Soroka University Medical Center, School of Medicine, Faculty of Health Sciences, Ben Gurion University of the Negev , Beer Sheva , Israel.

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December 2016

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Authors:
Jonathan Rips Shlomo Almashanu Hanna Mandel Sagi Josephsberg Tally Lerman-Sagie Ayelet Zerem Ben Podeh Yair Anikster Avraham Shaag Anthony Luder Orna Staretz Chacham Ronen Spiegel

J Inherit Metab Dis 2016 Mar 13;39(2):211-7. Epub 2015 Nov 13.

Rappaport School of Medicine, Technion, Haifa, Israel.

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March 2016

Galectins: Double-edged Swords in the Cross-roads of Pregnancy Complications and Female Reproductive Tract Inflammation and Neoplasia.

Authors:
Nandor Gabor Than Roberto Romero Andrea Balogh Eva Karpati Salvatore Andrea Mastrolia Orna Staretz-Chacham Sinuhe Hahn Offer Erez Zoltan Papp Chong Jai Kim

J Pathol Transl Med 2015 May 15;49(3):181-208. Epub 2015 May 15.

Perinatology Research Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Detroit, MI, USA ; Department of Pathology, Wayne State University, Detroit, MI, USA ; Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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May 2015

Early neonatal morbidities and associated modifiable and non-modifiable risk factors in a cohort of infants born at 34-35 weeks of gestation.

Authors:
Iris Morag Avital L Okrent Tzipora Strauss Orna Staretz-Chacham Jacob Kuint Michal J Simchen Amir Kugelman

J Matern Fetal Neonatal Med 2015 May 16;28(8):876-82. Epub 2014 Jul 16.

Department of Neonatology, The Edmond and Lily Safra Children's Hospital , Ramat Gan , Israel .

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May 2015

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Authors:
Michael Volodarsky Barak Markus Idan Cohen Orna Staretz-Chacham Hagit Flusser Daniella Landau Ilan Shelef Yshaia Langer Ohad S Birk

Hum Mutat 2013 Apr;34(4):582-6

The Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev (NIBN) and Faculty of Health Sciences, Ben Gurion University, Beer-Sheva, Israel.

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April 2013

A safety trial of high dose glyceryl triacetate for Canavan disease.

Authors:
Reeval Segel Yair Anikster Shoshana Zevin Avraham Steinberg William A Gahl Drora Fisher Orna Staretz-Chacham Ari Zimran Gheona Altarescu

Mol Genet Metab 2011 Jul 15;103(3):203-6. Epub 2011 Mar 15.

Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.

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July 2011

Psychiatric and behavioral manifestations of lysosomal storage disorders.

Authors:
Orna Staretz-Chacham Jae Hyuk Choi Kazuyo Wakabayashi Grisel Lopez Ellen Sidransky

Am J Med Genet B Neuropsychiatr Genet 2010 Oct;153B(7):1253-65

Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

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October 2010

Congenital diaphragmatic hernia: short-term outcome.

Authors:
Shlomo Cohen-Katan Nitza Newman-Heiman Orna Staretz-Chacham Zahavi Cohen Lily Neumann Eilon Shany

Isr Med Assoc J 2009 Apr;11(4):219-24

Faculty of Health Sciences, Department of Ben-Gurion University of the Negev, Beer Sheva, Israel.

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April 2009

Lysosomal storage disorders in the newborn.

Authors:
Orna Staretz-Chacham Tess C Lang Mary E LaMarca Donna Krasnewich Ellen Sidransky

Pediatrics 2009 Apr;123(4):1191-207

Office of the Clinical Director, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Dr, MSC 3708, Bethesda, MD 20892-3708, USA.

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April 2009