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Author

Hind Alsharhan

Observed names: Al- Sharhan H, Alsharhan, Hind, H. Alsharhan, Hind Al Sharhan, Hind Al-Sharhan, Hind AlSharhan
Observed institutions: Children's Hospital of Philadelphia, Johns Hopkins University, Johns Hopkins Medicine, Adan Hospital, Farwaniya Hospital, Kuwait University, Ministry of Health
ORCID: 0000-0002-6433-0311
Observed ORCID: 0000-0002-6433-0311
OpenAlex ID: A5083683837
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
2021 · Hind Alsharhan, Miao He, et al. · Journal of Inherited Metabolic Disease · 32
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Disorders of phenylalanine and tyrosine metabolism
2020 · Hind Alsharhan, Can Ficicioglu · Translational Science of Rare Diseases · 30
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Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG
2021 · Hind Alsharhan, Bobby G. Ng, et al. · Journal of Inherited Metabolic Disease · 20
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
2020 · David A. Dyment, Anne O'Donnell‐Luria, et al. · American Journal of Medical Genetics Part A · 20
LYRM7 ‐associated mitochondrial complex III deficiency with n on‐cavitating leukoencephalopathy and s troke‐like episodes
2023 · Rita Alfattal, Maryam Alfarhan, et al. · American Journal of Medical Genetics Part A · 15
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Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience
2021 · Hind Alsharhan, Amir A. Ahmed, et al. · International Journal of Neonatal Screening · 13
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Acromegaly in the setting of Tatton-Brown-Rahman Syndrome
2019 · C. Hage, E. Sabini, et al. · Pituitary · 12
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants
2023 · Maryam Aburezq, Ahmad Alahmad, et al. · Orphanet Journal of Rare Diseases · 9
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Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG
2024 · Earnest J. P. Daniel, Andrew C. Edmondson, et al. · Journal of Inherited Metabolic Disease · 8
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Expanding the phenotype of PPP1R21 ‐related neurodevelopmental disorder
2024 · Mohammed Almannai, Dana Marafi, et al. · Clinical Genetics · 7
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Further delineation of the SCAF4-associated neurodevelopmental disorder
2024 · Cosima M. Schmid, Anne Gregor, et al. · European Journal of Human Genetics · 5
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Association of interleukin-4, interleukin-13 gene polymorphisms, HLA-DQ and DR genotypes with genetic susceptibility of type-1 Diabetes Mellitus in Kuwaiti children
2023 · Mohammad Z. Haider, Maysoun Al Rushood, et al. · Frontiers in Pediatrics · 5
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Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males
2020 · Hind Alsharhan, Hana Alharbi, et al. · Clinical Chemistry · 5
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Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder
2024 · Nada T. Alzayed, Abdullah H. Alzuabi, et al. · Neurology Genetics · 3
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SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait
2025 · Laila Kazem, Wafaa Al-Qabandi, et al. · Molecular Genetics and Metabolism Reports · 2
Further delineation of the SCAF4-associated neurodevelopmental disorder
2025 · Schmid, Cosima M., Gregor, Anne, et al. · Research at the University of Copenhagen (University of Copenhagen) · 2
Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening
2024 · Hind Alsharhan, Mohammad Z. Haider, et al. · Frontiers in Pediatrics · 2
Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn Screening
2023 · Hind Alsharhan, Mohammad Z Haider, et al. · Preprints.org · 2
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Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies—Expanding the Phenotype
2023 · Noor Almoosawy, Fawaz Albaghli, et al. · Genes · 2
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eP001: Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait
2022 · Fatima Alabdulrazzaq, Hind AlSharhan, et al. · Genetics in Medicine · 2
COXPD9 in an individual from Puerto Rico and literature review
2021 · Hind Alsharhan, Colleen Muraresku, et al. · American Journal of Medical Genetics Part A · 2
A Middle East collaborative for undiagnosed diseases
2026 · Omer S. Alkhnbashi, Hamad Ali, et al. · Nature Reviews Genetics · 1
Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait
2025 · Hind Alsharhan, Fay Alkurd, et al. · American Journal of Medical Genetics Part A · 1
Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait
2025 · Hind Alsharhan, Amir A. Ahmed, et al. · International Journal of Neonatal Screening · 1
eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype
2022 · Noor Almoosawy, Haya AlBalool, et al. · Genetics in Medicine · 1
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Works count: 45
Citation count: 202
H-index: 8
I10-index: 7
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