Works by Almashanu, Shlomo

Results: 27

Long-Term Outcome of Patients with TPO Mutations.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 17, p. 3898, doi. 10.3390/jcm10173898

By:

Tobias, Leraz;
Elias-Assad, Ghadir;
Khayat, Morad;
Admoni, Osnat;
Almashanu, Shlomo;
Tenenbaum-Rakover, Yardena

Publication type:

Article

Non-Uptake of Newborn Screening in Planned Homebirth Is Associated with Preventive Health Practices for Infants: A Retrospective Case-Control Study.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 15, doi. 10.3390/ijns11010015

By:

Stein-Zamir, Chen;
Shoob, Hanna;
Katan, Sandra;
Verbov, Gina;
Almashanu, Shlomo

Publication type:

Article

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Published in:

Nature Genetics, 1999, v. 22, n. 2, p. 151, doi. 10.1038/9658

By:

Camacho, Jose A.;
Obie, Cassandra;
Biery, Barbara;
Goodman, Barbara K.;
Hu, Chien-An;
Almashanu, Shlomo;
Steel, Gary;
Casey, Robin;
Lambert, Marie;
Mitchell, Grant A.;
Valle, David

Publication type:

Article

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.

Published in:

Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01448

By:

Rechavi, Erez;
Lev, Atar;
Simon, Amos J.;
Stauber, Tali;
Daas, Suha;
Saraf-Levy, Talia;
Broides, Arnon;
Nahum, Amit;
Marcus, Nufar;
Hanna, Suhair;
Stepensky, Polina;
Toker, Ori;
Dalal, Ilan;
Etzioni, Amos;
Almashanu, Shlomo;
Somech, Raz

Publication type:

Article

The natural history of congenital hypothyroidism with delayed TSH elevation in neonatal intensive care newborns.

Published in:

Clinical Endocrinology, 2020, v. 92, n. 5, p. 443, doi. 10.1111/cen.14173

By:

Zung, Amnon;
Radi, Alin;
Almashanu, Shlomo

Publication type:

Article

Thyroid function tests in newborns of mothers with hypothyroidism.

Published in:

European Journal of Pediatrics, 2021, v. 180, n. 2, p. 519, doi. 10.1007/s00431-020-03895-y

By:

Haim, Alon;
Wainstock, Tamar;
Almashanu, Shlomo;
Loewenthal, Neta;
Sheiner, Eyal;
Hershkovitz, Eli;
Landau, Daniela

Publication type:

Article

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.

Published in:

Genes, 2021, v. 12, n. 8, p. 1140, doi. 10.3390/genes12081140

By:

Staretz-Chacham, Orna;
Amar, Shirly;
Almashanu, Shlomo;
Pode-Shakked, Ben;
Saada, Ann;
Wormser, Ohad;
Hershkovitz, Eli

Publication type:

Article

The Impact of Refeeding on Blood Fatty Acids and Amino Acid Profiles in Elderly Patients: A Metabolomic Analysis.

Published in:

JPEN Journal of Parenteral & Enteral Nutrition, 2013, v. 37, n. 1, p. 109, doi. 10.1177/0148607112443260

By:

Dror, Yosef;
Almashanu, Shlomo;
Lubart, Emilia;
Sela, Ben-Ami;
Shimoni, Liron;
Segal, Refael

Publication type:

Article

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ [sup 1]-pyrroline-5-carboxylate synthase.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 19, p. 2853, doi. 10.1093/hmg/9.19.2853

By:

Baumgartner, Matthias R.;
Hu, Chien-an A.;
Almashanu, Shlomo;
Steel, Gary;
Obie, Cassandra;
Aral, Bernard;
Rabier, Daniel;
Kamoun, Pierre;
Saudubray, Jean-Marie;
Valle, David

Publication type:

Article

Hyperthyroxinemia at birth: a cause of idiopathic neonatal hyperbilirubinemia?

Published in:

World Journal of Pediatrics, 2018, v. 14, n. 3, p. 247, doi. 10.1007/s12519-017-0113-7

By:

Ulanovsky, Irena;
Smolkin, Tatiana;
Almashanu, Shlomo;
Mashiach, Tatiana;
Makhoul, Imad R.

Publication type:

Article

The association between gestational selective serotonin reuptake inhibitor (SSRI) treatment and newborn thyroid screen: a large-scale cohort study.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05452-8

By:

Raviv, Orian;
Lebenthal, Yael;
Yackobovitch-Gavan, Michal;
Cohen-Sela, Eyal;
Almashanu, Shlomo;
Marom, Ronella;
Herzlich, Jacky;
Hiersch, Liran;
Brener, Avivit

Publication type:

Article

Maternal iodine deficiency: a newborns' overweight risk factor? A prospective study.

Published in:

Archives of Gynecology & Obstetrics, 2022, v. 305, n. 3, p. 777, doi. 10.1007/s00404-021-06261-x

By:

Ovadia, Yaniv S.;
Zangen, Shmuel;
Rosen, Shani R.;
Gefel, Dov;
Almashanu, Shlomo;
Benbassat, Carlos;
Fytlovich, Shlomo;
Aharoni, Dorit;
Anteby, Eyal Y.;
Shenhav, Simon

Publication type:

Article

Risk Factors for the Development of Delayed TSH Elevation in Neonatal Intensive Care Unit Newborns.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2017, v. 102, n. 8, p. 3050, doi. 10.1210/jc.2017-00701

By:

Zung, Amnon;
Palmon, Rachel Bier;
Golan, Agneta;
Troitzky, Mara;
Eventov-Friedman, Smadar;
Marom, Ronella;
Keidar, Rimona;
Kats, Neri;
Almashanu, Shlomo;
Flidel-Rimon, Orna

Publication type:

Article

Risk Factors for the Development of Delayed TSH Elevation in Neonatal Intensive Care Unit Newborns.

Published in:

2017

By:

Zung, Amnon;
Palmon, Rachel Bier;
Golan, Agneta;
Troitzky, Mara;
Eventov-Friedman, Smadar;
Marom, Ronella;
Keidar, Rimona;
Kats, Neri;
Almashanu, Shlomo;
Flidel-Rimon, Orna;
Bier Palmon, Rachel

Publication type:

journal article

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 895, doi. 10.1002/jimd.12778

By:

Pode‐Shakked, Ben;
Landau, Yuval E.;
Shaul Lotan, Nava;
Manor, Joshua;
Haham, Nitsan;
Kristal, Eyal;
Hershkovitz, Eli;
Hazan, Guy;
Haham, Yarden;
Almashanu, Shlomo;
Anikster, Yair;
Staretz‐Chacham, Orna

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 211, doi. 10.1007/s10545-015-9899-4

By:

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

Publication type:

Article

A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU11>3.0.CO;2-0

By:

Chinsky, Jeffrey;
Appel, Melissa;
Almashanu, Shlomo;
Costeas, Paul;
Ambulos, Nicholas;
Carmi, Rivka

Publication type:

Article

Outcomes in Maternal Graves' Disease: A Population-Based Mother–Infant Dyad Cohort Study.

Published in:

Thyroid, 2024, v. 34, n. 1, p. 123, doi. 10.1089/thy.2023.0291

By:

Cohen-Sela, Eyal;
Brener, Avivit;
Raviv, Orian;
Yackobovitch-Gavan, Michal;
Almashanu, Shlomo;
Marom, Ronella;
Anteby, Matan;
Hiersch, Liran;
Lebenthal, Yael

Publication type:

Article

Congenital Hypothyroidism Can Dictate the Mode of Delivery and Intra-Labor Medication Usage.

Published in:

Thyroid, 2021, v. 31, n. 12, p. 1878, doi. 10.1089/thy.2021.0388

By:

Rosen, Gil;
Lavie, Anat;
Yackobovitch-Gavan, Michal;
Almashanu, Shlomo;
Priel, Meital;
Many, Ariel;
Lebenthal, Yael;
Brener, Avivit

Publication type:

Article

Can Mild-to-Moderate Iodine Deficiency during Pregnancy Alter Thyroid Function? Lessons from a Mother–Newborn Cohort.

Published in:

Nutrients, 2022, v. 14, n. 24, p. 5336, doi. 10.3390/nu14245336

By:

Shenhav, Simon;
Benbassat, Carlos;
Gefel, Dov;
Zangen, Shmuel;
Rosen, Shani R.;
Avrahami-Benyounes, Yael;
Almashanu, Shlomo;
Groisman, Ludmila;
Rorman, Efrat;
Fytlovich, Shlomo;
Anteby, Eyal Y.;
Ovadia, Yaniv S.

Publication type:

Article

Neonatal hyperthyrotropinemia is associated with low birth weight: a twin study.

Published in:

European Journal of Endocrinology, 2013, v. 168, n. 2, p. 263, doi. 10.1530/EJE-12-0710

By:

Zung, Amnon;
Yehieli, Arie;
Almashanu, Shlomo

Publication type:

Article

Long-Term Outcome of Loss-of-Function Mutations in Thyrotropin Receptor Gene.

Published in:

Thyroid, 2015, v. 25, n. 3, p. 292, doi. 10.1089/thy.2014.0311

By:

Tenenbaum-Rakover, Yardena;
Almashanu, Shlomo;
Hess, Ora;
Admoni, Osnat;
Hag-Dahood Mahameed, Ahmad;
Schwartz, Naama;
Allon-Shalev, Stavit;
Bercovich, Dani;
Refetoff, Samuell

Publication type:

Article

Newborn Screening for Severe T and B cell Immunodeficiency in Israel: a Pilot Study.

Published in:

Israel Medical Association Journal, 2013, v. 15, n. 8, p. 404

By:

Somech, Raz;
Lev, Atar;
Simon, Amos J.;
Korn, David;
Garty, Ben Zion;
Amariglio, Ninette;
Rechavi, Gideon;
Almashanu, Shlomo;
Zlotogora, Joel;
Etzioni, Amos

Publication type:

Article

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01672

By:

Lev, Atar;
Simon, Amos J.;
Barel, Ortal;
Eyal, Eran;
Glick-Saar, Efrat;
Nayshool, Omri;
Birk, Ohad;
Stauber, Tali;
Hochberg, Amit;
Broides, Arnon;
Almashanu, Shlomo;
Hendel, Ayal;
Lee, Yu Nee;
Somech, Raz

Publication type:

Article

MHC II deficient infant identified by newborn screening program for SCID.

Published in:

Immunologic Research, 2018, v. 66, n. 4, p. 537, doi. 10.1007/s12026-018-9019-2

By:

Marcus, Nufar;
Stauber, Tali;
Lev, Atar;
Simon, Amos J.;
Stein, Jerry;
Broides, Arnon;
Somekh, Ido;
Almashanu, Shlomo;
Somech, Raz

Publication type:

Article

Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1653, doi. 10.1210/clinem/dgae485

By:

German, Alina;
Almashanu, Shlomo;
Vries, Liat de;
Margolis, Merav Gil;
Halloun, Rana;
Haim, Alon;
Eyal, Ori;
Levy-Khademi, Floris;
Pivko-Levy, Dikla;
Nir, Judith;
Pinhas-Hamiel, Orit;
Tenenbaum-Rakover, Yardena

Publication type:

Article

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 424, doi. 10.1210/clinem/dgad524

By:

Ludar, Hanna;
Levy-Shraga, Yael;
Admoni, Osnat;
Majdoub, Hussein;
Aronovitch, Kineret Mazor;
Koren, Ilana;
Rath, Shoshana;
Elias-assad, Ghadir;
Almashanu, Shlomo;
Mantovani, Giovanna;
Hamiel, Orit Pinhas;
Tenenbaum-Rakover, Yardena

Publication type:

Article