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H. Alharbi · SciRah

Researcher profile · Semantic Scholar

H. Alharbi

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H. Alharbi — researcher profile on SciRah

h-index: 6
Works: 20
Citations: 242

Most-cited papers

Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex
Yu-Dong Wang, J. Palmfeldt, N. Gregersen, A. Makhov +9 more
2019Journal of Biological Chemistry116 citations Open access
Semantic Scholar
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
M. Schiff, Birgit Haberberger, C. Xia, A. Mohsen +17 more
2015Human Molecular Genetics61 citations Open access
Semantic Scholar
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
H. Alharbi, E. Daniel, J. Thies, Irene J. Chang +20 more
2023Journal of Inherited Metabolic Disease15 citations Open access
Semantic Scholar
Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation.
A. Habeb, H. Alharbi, Karl P. Schlingmann
2012Saudi Journal of Kidney Diseases and Transplantation15 citations Open access
Semantic Scholar
Mitochondrial Hepatopathies
H. Alharbi, J. Priestley, Benjamin J. Wilkins, R. Ganetzky
2021Clinical Liver Disease10 citations Open access
Semantic Scholar
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
J. Priestley, H. Alharbi, K. Callahan, Herodes Guzman +5 more
2020International Journal of Neonatal Screening8 citations Open access
Semantic Scholar
Neurological Complications following Blood Transfusions in Sickle Cell Anemia
H. Alharbi, Nayaab Khawar, Jolanta Kulpa, A. Bellin +2 more
2017Case Reports in Hematology5 citations Open access
Semantic Scholar
Sleep study abnormalities in patients with Down syndrome.
H. Banjar, M. Jamil, H. Kattan, J. Jancy +3 more
20134 citations
Semantic Scholar
Causes of Mortality in the Congenital Disorders of Glycosylation
H. Alharbi, Seishu Horikoshi, S. M. Jenkins, F. Scaglia +4 more
2025Molecular Genetics and Metabolism3 citations Open access
Semantic Scholar
Nutrition and Obsessive-Compulsive Disorder
Senthilkumar Rajagopal, M. M. Essa, Saravanan Ramachandran, Geethalakshmi Sundararaman +1 more
20232 citations
Semantic Scholar
Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase (OTC) Deficiency in Affected Males
H. Alsharhan, H. Alharbi, J. Priestley, R. Ganetzky +1 more
2020Clinical Chemistry2 citations Open access
Semantic Scholar
Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board
Abdullah H. Alfalah, Hamad Alzaidan, Ahmad Alfares, R. Sulaiman +19 more
2026Prenatal Diagnosis1 citations Open access
Semantic Scholar
A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic
Xinying Hong, H. Alharbi, Daniah Albokhari, A. Edmondson +1 more
2022Clinical Chemistry1 citations Open access
Semantic Scholar
Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
H. Alharbi, M. J. Bennett, Miao He, S. Master +1 more
2021Clinical Chemistry1 citations Open access
Semantic Scholar
The Intersection of Alcohol Dependence and Major Depressive Disorder: Genetic, Psychological, and Treatment Implications
Mohammed Thamr Almutairi, R. Alomair, A. Awadh, H. Alharbi +18 more
2020Journal of Angiotherapy1 citations Open access
Semantic Scholar
EPID-26. The Complex Landscape of Neurofibromatosis Type 1 and Plexiform Neurofibromas in A Highly Consanguineous Population
Faisal S. Alqahtani, A. Almahmoud, Shaikhah Almuaily, Albandary Albakheet +3 more
2025Neuro-Oncology0 citations
Semantic Scholar
Metabolomics profiling of deoxyguanosine kinase (DGUOK) deficiency revealed potential diagnostic biomarkers - a tale of one case
H. Alharbi, Hamzah Naji, Reem AlMalki, Maha Al Mogren +2 more
2024Molecular Genetics and Metabolism0 citations
Semantic Scholar
IMPROVING THE DIAGNOSTIC EVALUATION OF CHILDREN WITH INTELLECTUAL DISABILITY AND GLOBAL DEVELOPMENTAL DELAY IN PRIMARY CARE SETTING
H. Alharbi, Torrin Davis, C. Desrochers, Kathleen M. Zsolway +5 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Secondary Findings of Newborn Screening
H. Alharbi, Miao He
2023OBM Genetics0 citations Open access
Semantic Scholar
Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.
H. Alharbi, Xinying Hong, Alyssa L. Ritter, R. Ahrens-Nicklas +2 more
2022Clinical Chemistry0 citations Open access
Semantic Scholar

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Miao He×4
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R. Ganetzky×4
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J. Priestley×3
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Yu-Dong Wang×2
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