mucopolysaccharidosis
HP:0008155 · SaudiVarKB evidence summary derived from retained literature mentions.
37Phenotype mentions
37Publications
10Associated gene records
9Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publicationsAssociated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 3 | 3 |
| Saudi Arabia | — | 2 | 2 |
| Population record | — | 1 | 1 |
| Population record | Cohort 20 | 1 | 1 |
| Population record | Cohort 3 | 1 | 1 |
| Population record | Cohort 2 | 1 | 1 |
| Population record | Cohort 5 | 1 | 1 |
| Population record | Cohort 12 | 1 | 1 |
| Population record | Cohort 1,190 | 1 | 1 |
| Population record | Cohort 478 | 1 | 1 |
| Population record | Cohort 173 | 1 | 1 |
| Population record | Cohort 292 | 1 | 1 |
| Population record | Cohort 163 | 1 | 1 |
| Saudi Arabia · Eastern Province | Cohort 530 | 1 | 1 |
| Saudi Arabia | Cohort 800 | 1 | 1 |
| Saudi Arabia · Eastern Province | Cohort 18 | 1 | 1 |
| Saudi Arabia | Cohort 125 | 1 | 1 |
Supporting publications
37 records- 2025Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.Molecular genetics and metabolism1 mentions
- 2025Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report.Neurology international1 mentions
- 2024Airway management of a child with mucopolysaccharidosis undergoing cervical spine surgery: A case report.Saudi journal of anaesthesia1 mentions
- 2024Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.Cureus1 mentions
- 2024Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia.Orphanet journal of rare diseases1 mentions
- 2024Endodontic management of taurodontism in a patient with Morquio syndrome: Case report of a 16-year-old girl.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry1 mentions
- 2023Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.Diseases (Basel, Switzerland)1 mentions
- 2022Growth hormone therapy in short-stature patients with kyphoscoliosis: a literature review.EFORT open reviews1 mentions
- 2022An Infant Presenting with Interstitial Lung Disease Diagnosed Later as Hunter Syndrome: A Case Report.The American journal of case reports1 mentions
- 2022A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.Cureus1 mentions
- 2021Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland)1 mentions
- 2021Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Human mutation1 mentions
- 2021Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.JMIR research protocols1 mentions
- 2020Imaging features of mucopolysaccharidoses in the head and neck.International journal of pediatric otorhinolaryngology1 mentions
- 2019Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.Journal of pediatric endocrinology & metabolism : JPEM1 mentions
- 2018The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.Journal of community genetics1 mentions
- 2018Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.Molecular genetics and metabolism1 mentions
- 2018Mucopolysaccharidoses: overview of neuroimaging manifestations.Pediatric radiology1 mentions
- 2018Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.Human mutation1 mentions
- 2016Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2015Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.Molecular genetics and metabolism1 mentions
- 2015I-gel assisted fiberoptic intubation in a child with Morquio's syndrome.Saudi journal of anaesthesia1 mentions
- 2015Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.Orphanet journal of rare diseases1 mentions
- 2014Anesthetic management of a 2-day-old with complete congenital heart block.Saudi journal of anaesthesia1 mentions
- 2014Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Molecular genetics and metabolism1 mentions
- 2012Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.Journal of medical genetics1 mentions
- 2012Anesthetic management in children with Hurler's syndrome undergoing emergency ventriculoperitoneal shunt surgery.Saudi journal of anaesthesia1 mentions
- 2010Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008.Annals of Saudi medicine1 mentions
- 2005Diffusion-weighted MR imaging in leukodystrophies.European radiology1 mentions
- 2005Airway management of mucopolysaccharidosis with cervical spine involvement.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 1996Glaucoma in mucopolysaccharidosis 1-H/S.Journal of pediatric ophthalmology and strabismus1 mentions
- 1994Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis.Journal of child neurology1 mentions
- 1992Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.American journal of medical genetics1 mentions
- 1992Saudi variant of multiple sulfatase deficiency.Journal of child neurology1 mentions
- 1992GM1 gangliosidosis type 2 in two siblings.Journal of child neurology1 mentions
- 1990Prevalence of different types of lysosomal storage diseases in Saudi Arabia.Journal of inherited metabolic disease1 mentions
- 1989Albumin transfusion in non-immune fetal hydrops: Doppler ultrasound evaluation of the acute effects on blood circulation in the fetal aorta and the umbilical arteries.Fetal therapy1 mentions