A5091911332- Glycosylation and Glycoproteins Research
- Neonatal Health and Biochemistry
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Pancreatic function and diabetes
- Glycogen Storage Diseases and Myoclonus
- Biomedical Research and Pathophysiology
- Cellular transport and secretion
- Fetal and Pediatric Neurological Disorders
- Biochemical and Molecular Research
- RNA modifications and cancer
- Methemoglobinemia and Tumor Lysis Syndrome
- Galectins and Cancer Biology
- Metabolomics and Mass Spectrometry Studies
- Erythrocyte Function and Pathophysiology
- Congenital Diaphragmatic Hernia Studies
- vaccines and immunoinformatics approaches
- Mast cells and histamine
- Pancreatitis Pathology and Treatment
- Digestive system and related health
- Metastasis and carcinoma case studies
- Congenital gastrointestinal and neural anomalies
King Faisal Specialist Hospital & Research Centre
2017-2024
Alfaisal University
2020-2024
Mayo Clinic in Florida
2023-2024
King Abdullah Medical City
2023
Mayo Clinic
2022
Montreal Children's Hospital
2017-2019
McGill University
2017-2019
King Abdulaziz Medical City
2013-2019
King Saud bin Abdulaziz University for Health Sciences
2018-2019
National Guard Health Affairs
2018-2019
Abstract Background Transaldolase deficiency (TALDO‐D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has no comprehensive overview phenotype, genotype, and phenotype–genotype correlation. Methods We performed retrospective questionnaire literature study clinical, biochemical, molecular data 34 patients from 25 families with proven TALDO‐D. In some patients, endocrine...
Abstract Background The clinical utility of exome sequencing is now well documented. Rapid (RES) more resource-intensive than regular and typically employed in specialized settings wherein urgent molecular diagnosis thought to influence acute management. Studies on the RES have been largely limited outbred populations. Methods Here, we describe our experience with rapid a highly consanguineous population. Clinical included intensive care units, prenatal cases approaching legal cutoff for...
Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack robust data. To better characterize immune-related manifestations’ prevalence, relevance, quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG patients (2) the general “healthy” population. Two-hundred nine patients/caregivers 349 healthy participants were included this...
Arthrogryposis refers to congenital contracture in at least two different body parts. When distal joints are primarily involved, the term arthrogryposis (DA) is used. The recognition of clinically distinct subtypes DA has proven very useful mapping disease genes for this genetically heterogeneous condition. DA5D characterized by ocular involvement usually form ptosis and incomitant strabismus, but extraocular manifestations have also been reported. In a multiplex consanguineous family with...
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and characterized by anhidrosis, insensitivity to noxious stimuli leading self-mutilating behavior, intellectual disability. HSAN-IV caused mutations the neurotrophic tyrosine kinase receptor 1 gene, NTRK1, encoding high-affinity of nerve growth factor (NGF) which maps chromosome 1q21-q22. Patients with lack all NGF-dependent neurons, primary afferents sympathetic...
Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function were reported cause recessive developmental and encephalopathy unrelated patients. Here, we investigated a singleton from first-degree cousin marriage who presented with facial dysmorphism, global delay, seizure disorder, nystagmus. To identify the involvement any likely genetic cause, diagnostic clinical exome sequencing was performed....
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2-CDG. The frequency and etiology hypoglycemia PMM2-CDG are not well studied.
Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting function. Although next generation sequencing technologies have revolutionized the diagnosis these disorders, biochemical tests remain essential and functional confirmation critical diagnosis. While enzymological testing oxidative phosphorylation (OXPHOS) complexes remains gold standard, oxygraphy could offer several advantages. To this end, we compared diagnostic performance both techniques in...
We report successful heart transplantation in a phosphoglucomutase 1 deficient (PGM1-CDG) patient. She presented with facial dysmorphism, bifid uvula and structural defects. Newborn screening was positive for classic galactosemia. The patient on galactose-free diet 8 months. Eventually, whole exome sequencing excluded the galactosemia revealed PGM1-CDG. Oral D-galactose therapy started. Rapid deterioration of progressive dilated cardiomyopathy prompted at age 12 Cardiac function stable first...
Abstract Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol biosynthesis. The cardinal features HPMRS4 include; characteristic facial features, severe intellectual disability and various neurologic abnormalities. We report here detailed clinical, biochemical, molecular findings 14 patients clinically suspected to have HPMRS4, from three Middle‐Eastern Countries; Saudi Arabia, Qatar,...