Search Results - "Alshuaibi, Walaa"
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Corrigendum: Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations
Published in Frontiers in oncology (22-10-2024)“…[This corrects the article DOI: 10.3389/fonc.2024.1323176.].[This corrects the article DOI: 10.3389/fonc.2024.1323176.]…”
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Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations
Published in Frontiers in oncology (27-08-2024)“…Neurofibromatosis type 1 (NF1) is a complex multisystem genetic disorder that requires long-term, age-specific monitoring and multidisciplinary care. NF1…”
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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East
Published in Frontiers in pediatrics (13-09-2021)“…The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and…”
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Pediatric resident's perception of night float system compared to 24 hours system, a prospective study
Published in BMC medical education (06-01-2021)“…The study aims to evaluate the perceptions of pediatric residents under the night float (NF) on-call system and its impact on well-being, education, and…”
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Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia
Published in Frontiers in pediatrics (09-10-2020)“…Background: Acute necrotizing encephalopathy of childhood (ANEC) is a rapidly progressing encephalopathy characterized by fever, depressed level of…”
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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy
Published in Circulation. Genomic and precision medicine (01-10-2020)“…Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of…”
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The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
Published in Frontiers in pediatrics (13-05-2021)“…Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement…”
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Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital
Published in Children (Basel) (01-09-2022)“…Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (06-06-2019)“…We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (03-10-2019)Get full text
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Immunomodulation in a patient with Morquio syndrome type A treated with enzyme replacement therapy
Published in Molecular genetics and metabolism (01-02-2016)Get full text
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Immune modulation in a patient with Morquio syndrome treated with enzyme replacement therapy
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-09-2018)“…Immune modulation has been used in lysosomal storage disorders, most notably Pompe disease.1 The Duke University immune tolerance induction protocol was shown…”
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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East
Published in Frontiers in pediatrics (01-01-2021)Get full text
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