Publications by authors named "Abdulsalam Abu-Libdeh"

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A Case of Heterozygous INS Gene Missense Variant in Neonatal Diabetes with Beta-Cell Autoantibodies: Experience in Limited Resources Setting.
Yuni Hisbiyah, Muhammad Faizi, Rayi Kurnia Perwitasari, Nur Rochmah, Evhy Apryani, Abdulsalam Issa Abu-Libdeh

Horm Res Paediatr· September 2025

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A Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.
Amitay Cohen, Raffaella Rossetti, Natan Florsheim, Abraham O Samson, Paul Renbaum, Abdulsalam Abu-Libdeh

J Endocr Soc· January 2025

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Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Jonathan Rips, Orli Halstuk, Adina Fuchs, Ziv Lang, Tal Sido, Bassam Abu-Libdeh, Abdulsalam Abu-Libdeh

Genet Med· April 2024

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Growth hormone therapy for children with Duchenne muscular dystrophy and glucocorticoid induced short stature.
Eran Lavi, Amitay Cohen, Abdulsalam Abu Libdeh, Reuven Tsabari, David Zangen

Growth Horm IGF Res· December 2023

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Lessons Learned From COVID-19 Lockdown: An ASPED/MENA Study on Lifestyle Changes and Quality of Life During Ramadan Fasting in Children and Adolescents Living With Type 1 Diabetes.
Amir Babiker, Nancy Samir Elbarbary, Bothainah Alaqeel, Khalid Al Noaim, Saif Al Yaarubi, Abdulsalam Abu-Libdeh

Clin Med Insights Endocrinol Diabetes· October 2023

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Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review.
Rania Ateya, Thomas Ciecierega, Muttaz Abusamra, Motee Abuawwad, Abdulsalam Abu-Libdeh

JPGN Rep· August 2023

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Retraction Notice to "Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation".
Vered Molho-Pessach, Yuval Ramot, Maxim Mogilevsky, Leonor Cohen-Daniel, Eli M Eisenstein, Abdulsalam Abu-Libdeh

J Dermatol Sci· November 2022

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RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
Bassam Abu-Libdeh, Satpal S Jhujh, Srijita Dhar, Joshua A Sommers, Arindam Datta, Abdulsalam Abu-Libdeh

J Clin Invest· March 2022

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Global Emergencies in Child Health: Challenges and Solutions-Viewpoint and Recommendations from the European Paediatric Association and the International Pediatric Association.
Naveen Thacker, Enver Hasanoglu, Joel Dipesalema, Leyla Namazova-Baranova, Aman Pulungan, Abdulsalam Abu-Libdeh

J Pediatr· February 2022

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Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village….
Amanda Rowlands, Asma Deeb, Asmahane Ladjouze, Rasha T Hamza, Salwa A Musa, Abdulsalam Abu-Libdeh

BMJ Glob Health· October 2021

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Eligibility for growth hormone therapy in children born small for gestational age is substantially lower than expected.
Eran Lavi, Asher Shafrir, Rana Halloun, Itai Basel, Smadar Eventov Friedman, Abdulsalam Abu-Libdeh

Clin Endocrinol (Oxf)· August 2021

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Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Yaniv Faingelernt, Eli Hershkovitz, Bassam Abu-Libdeh, Amal Abedrabbo, Sara Abu-Rmaileh Amro, Abdulsalam Abu-Libdeh

Am J Med Genet A· April 2021

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A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
Eran Lavi, Mahmud Zighan, Abdulsalam Abu Libdeh, Tehila Klopstock, Ariella Weinberg-Shukron

Pediatr Endocrinol Rev· August 2020

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Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
Naomi Pode-Shakked, Ayala Blau, Ben Pode-Shakked, Dov Tiosano, Naomi Weintrob, Abdulsalam Abu-Libdeh

J Clin Endocrinol Metab· August 2019

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RETRACTED: Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation.
Vered Molho-Pessach, Yuval Ramot, Maxim Mogilevsky, Leonor Cohen-Daniel, Eli M Eisenstein, Abdulsalam Abu-Libdeh

J Dermatol Sci· August 2017

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GLP-1-RA Corrects Mitochondrial Labile Iron Accumulation and Improves β-Cell Function in Type 2 Wolfram Syndrome.
Liron Danielpur, Yang-Sung Sohn, Ola Karmi, Chen Fogel, Adar Zinger, Abdulsalam Abu-Libdeh

J Clin Endocrinol Metab· October 2016

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Iatrogenic Cushing Syndrome due to Intranasal Dexamethasone.
Amihai Rottenstreich, Isaiah D Wexler, Abdulsalam Abu-Libdeh, Yackov Berkun

Clin Pediatr (Phila)· October 2015

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Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Ariella Weinberg-Shukron, Abdulsalam Abu-Libdeh, Fouad Zhadeh, Liran Carmel, Aviram Kogot-Levin

J Med Genet· September 2015

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Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Asaf Vivante, Danny Lotan, Naomi Pode-Shakked, Daniel Landau, Peter Svec, Abdulsalam Abu-Libdeh

Nephron Physiol· April 2014

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XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
David Zangen, Yotam Kaufman, Sharon Zeligson, Shira Perlberg, Hila Fridman

Am J Hum Genet· October 2011

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Propionic acidemia mimicking diabetic ketoacidosis.
Imad M Dweikat, Enas N Naser, Abdulsalam I Abu Libdeh, Osama J Naser, Najwan N Abu Gharbieh

Brain Dev· May 2011

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Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy.
Abdulsalam Abu Libdeh, Floris Levy-Khademi, Maha Abdulhadi-Atwan, Emily Bosin, Mira Korner

Eur J Endocrinol· February 2010

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Optimizing health care for individuals with Down syndrome in Israel.
Isaiah D Wexler, Abdulsalam Abu-Libdeh, Yael Kastiel, Alon Nimrodi, Eitan Kerem

Isr Med Assoc J· November 2009

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Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.
Maha Abdulhadi-Atwan, Jeremy Bushman, Sharona Tornovsky-Babaey, Avital Perry, Abdulsalam Abu-Libdeh

Diabetes· July 2008

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