Publications by authors named "Buthaina Albash"

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deficiency and intrafamilial variability: Two cases from Kuwait.
Laila Kazem, Wafaa Al-Qabandi, Buthaina Albash, Reem Elshafie, Miao He

Mol Genet Metab Rep· December 2025

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Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.
Hind Alsharhan, Fay Alkurd, Mohammad A Ebrahim, Nawal Y Ali, Alshyamaa A Ali, Buthaina Albash

Am J Med Genet A· October 2025

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Phenotypic Diversity Caused by the Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Mohammad A Ebrahim, Naser M Ali, Buthaina Y Albash, Ali H Al Sayegh, Noof B Ahmad

Circ Genom Precis Med· June 2025

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Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.
Hind Alsharhan, Amir A Ahmed, Marwa Abdullah, Moudhi Almaie, Makia J Marafie, Buthaina Albash

Int J Neonatal Screen· February 2025

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Biallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Rauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, Askhat Mukushev, Akbota Zharylkassyn, Buthaina Albash

Brain Commun· December 2024

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Integration of validated functional evidence to support the pathogenicity of variants.
Reema W Aljassar, Qianyi Shen, Buthaina Albash, Jamie I Vandenberg, Mohammad A Ebrahim

Genet Med Open· July 2024

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Tribal Founder Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of -Related Disorder.
Nada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, Ehab A El-Anany, Abdullah Alholle, Buthaina Albash

Neurol Genet· June 2024

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Trans-2,3-enoyl-CoA reductase-like-related catecholaminergic polymorphic ventricular tachycardia with regular ventricular tachycardia and response to flecainide.
Mohammad A Ebrahim, Ali A Alkhabbaz, Buthaina Albash, Ali H AlSayegh, Gregory Webster

J Cardiovasc Electrophysiol· September 2023

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Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Buthaina Albash

Orphanet J Rare Dis· September 2023

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SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Buthaina Albash

Brain· August 2023

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LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.
Rita Alfattal, Maryam Alfarhan, Adeeb M Algaith, Buthaina Albash, Reem M Elshafie

Am J Med Genet A· May 2023

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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Rauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, Ralf A Husain, Alessia Catania, Buthaina Albash

Am J Hum Genet· September 2022

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Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
Huafang Jiang, Ahmad Alahmad, Song Fu, Xiaoling Fu, Zhimei Liu, Buthaina Albash

J Inherit Metab Dis· March 2022

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Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Hind Alsharhan, Amir A Ahmed, Naser M Ali, Ahmad Alahmad, Buthaina Albash

Int J Neonatal Screen· August 2021

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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Zuhair N Al-Hassnan, Abdulrahman Almesned, Sahar Tulbah, Ali Alakhfash, Faten Alhadeq, Buthaina Albash

Circ Genom Precis Med· October 2020

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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash

Hum Mutat· October 2019

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