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Molecular Genetics and Metabolism Reports|October 27, 2025
SCYL1 deficiency and intrafamilial variability: Two cases from KuwaitLaila Kazem, Wafaa Al-Qabandi, Buthaina Albash, et al.
Orphanet Journal of Rare Diseases|September 5, 2023
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variantsMaryam Aburezq, Ahmad Alahmad, Rasha Alsafi, et al.
American Journal of Medical Genetics. Part A|February 9, 2023
LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodesRita Alfattal, Maryam Alfarhan, Adeeb M Algaith, et al.
Children (Basel, Switzerland)|September 28, 2024
Growth Stunting and Nutritional Deficiencies among Children and Adolescents with Celiac Disease in Kuwait: A Case-Control StudyEsraa Almahmoud, Dalal Usamah Zaid Alkazemi, Wafaa Al-Qabandi
American Journal of Medical Genetics. Part A|June 10, 2025
Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From KuwaitHind Alsharhan, Fay Alkurd, Mohammad A Ebrahim, et al.
Molecular Genetics & Genomic Medicine|July 21, 2026
A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular FindingsHind Alsharhan, Worood Alostad, Alshaymaa A Ali, et al.
Journal of Inherited Metabolic Disease|April 10, 2024
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDGEarnest J P Daniel, Andrew C Edmondson, Yair Argon, et al.
American Journal of Medical Genetics. Part A|May 19, 2021
COXPD9 in an individual from Puerto Rico and literature reviewHind Alsharhan, Colleen Muraresku, Rebecca D Ganetzky
Neurology. Genetics|May 24, 2024
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related DisorderNada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, et al.
Journal of Asthma and Allergy|March 14, 2023
Children with Delayed-Type Cow's Milk Protein Allergy May Be at a Significant Risk of Developing Immediate Allergic Reactions Upon Re-introductionMaysoun Al Rushood, Wafaa Al-Qabandi, Amani Al-Fadhli, et al.
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