Cargando…

Mucolipidosis II: first report from Saudi Arabia

BACKGROUND AND OBJECTIVES: Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement. It is caused by a deficiency in N-acetylglucosamine-1 phosphotransferase. DESIGN AND SETTINGS: This is a case series...

Descripción completa

Detalles Bibliográficos
Autores principales:	Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	King Faisal Specialist Hospital and Research Centre 2013
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078501/ https://www.ncbi.nlm.nih.gov/pubmed/24060719 http://dx.doi.org/10.5144/0256-4947.2013.382

Ejemplares similares

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
por: Alfadhel, Majid, et al.
Publicado: (2016)

Spinal muscular atrophy carrier frequency in Saudi Arabia
por: Al Jumah, Mohammed, et al.
Publicado: (2022)

Drug treatment of inborn errors of metabolism: a systematic review
por: Alfadhel, Majid, et al.
Publicado: (2013)

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
por: Hossain, Mohammad Arif, et al.
Publicado: (2017)

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
por: Alfadhel, Majid, et al.
Publicado: (2013)

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
por: Alfadhel, Majid, et al.
Publicado: (2021)

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
por: Alfadhel, Majid, et al.
Publicado: (2022)

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
por: Malik, Amna, et al.
Publicado: (2017)

Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia
por: Alyafee, Yusra, et al.
Publicado: (2021)

Floristic diversity and vegetation of the az Zakhnuniyah Island, Arabian Gulf, Saudi Arabia
por: Al-Taisan, Wafa’a A.
Publicado: (2022)

Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
por: Mao, Shao-Jia, et al.
Publicado: (2022)

Preference of cognitive approaches for decision making among anesthesiologists’ in Saudi Arabia
por: Alshaalan, Anas Alshaalan, et al.
Publicado: (2019)

Delineation of cystinuria in Saudi Arabia: A case series
por: Obaid, Abdulrahman, et al.
Publicado: (2017)

Probing pathomechanisms of mucolipidosis II in fish
Publicado: (2012)

Hip Morphology in Mucolipidosis Type II
por: Ammer, Luise Sophie, et al.
Publicado: (2020)

Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia
por: Alyafee, Yusra, et al.
Publicado: (2021)

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
por: Sheereen, Atia, et al.
Publicado: (2017)

Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
por: Idol, Rachel A., et al.
Publicado: (2014)

A Remote Sensing Approach for Displaying the Changes in the Vegetation Cover at Az Zakhnuniyah Island at Arabian Gulf, Saudi Arabia
por: Al-Taisan, Wafa'a A.
Publicado: (2022)

Correction: Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
Publicado: (2014)

Comparative morphological and anatomical characters of Cakile arabica from different habitat in eastern region of Saudi Arabia
por: Al-Taisan, Wafa’a A., et al.
Publicado: (2017)

Determinants of High Breastfeeding Self-Efficacy among Nursing Mothers in Najran, Saudi Arabia
por: Al-Thubaity, DaifAllah D., et al.
Publicado: (2023)

The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
por: Alfarsi, Anar, et al.
Publicado: (2021)

COVID-19 and Pediatric Rheumatology: A Comprehensive Study from a Leading Tertiary Center in Saudi Arabia
por: Alqanatish, Jubran, et al.
Publicado: (2023)

Artificial intelligence for improving Nitrogen Dioxide forecasting of Abu Dhabi environment agency ground-based stations
por: AlShehhi, Aamna, et al.
Publicado: (2023)

c-Diadem: a constrained dual-input deep learning model to identify novel biomarkers in Alzheimer’s disease
por: Jemimah, Sherlyn, et al.
Publicado: (2023)

Hepatitis C virus genotypes in Saudi Arabia: a future prediction and laboratory profile
por: Bawazir, Amen, et al.
Publicado: (2017)

Increased prevalence of rotavirus gastroenteritis among children in Riyadh Saudi Arabia
por: Tayeb, HT, et al.
Publicado: (2011)

First Dinosaurs from Saudi Arabia
por: Kear, Benjamin P., et al.
Publicado: (2013)

Tetrasomy 18p: case report and review of literature
por: Bawazeer, Shahad, et al.
Publicado: (2018)

Gender Disparities in Osteoporosis Knowledge, Health Beliefs and Preventive Behaviors in Najran City, Saudi Arabia
por: Ibrahim, Heba A., et al.
Publicado: (2023)

Increasing obesity rates in school children in United Arab Emirates
por: AlBlooshi, A., et al.
Publicado: (2016)

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia
por: Alharthi, Raghad, et al.
Publicado: (2022)

First report on the prevalence of bacteria in cystic fibrosis patients (CF) in a tertiary care center in Saudi Arabia
por: Banjar, Hanaa, et al.
Publicado: (2022)

Treatment Patterns and Outcomes Among Elderly Glioblastoma Patients in Riyadh, Saudi Arabia
por: Marie, Amal, et al.
Publicado: (2022)

Noise Annoyance in the UAE: A Twitter Case Study via a Data-Mining Approach
por: Peplow, Andrew, et al.
Publicado: (2021)

Associated Factors of Exclusive Breastfeeding Intention among Pregnant Women in Najran, Saudi Arabia
por: Ibrahim, Heba A., et al.
Publicado: (2023)

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
por: Alegra, Taciane, et al.
Publicado: (2014)

Common disease-associated gene variants in a Saudi Arabian population
por: Aleissa, Mariam, et al.
Publicado: (2022)

Prospective Evaluation of Side-Effects Following the First Dose of Oxford/AstraZeneca COVID-19 Vaccine among Healthcare Workers in Saudi Arabia
por: Darraj, Majid A., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_aq27010lo85s1dbaur3v7r7kt4