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Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.
Children (Basel)
December 2023
Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Article Synopsis
- In rare cases, extensive DM in young children can indicate the presence of mucopolysaccharidoses (MPS), specifically linked to conditions like Hurler syndrome and Hunter syndrome.
- A new case study involving a two-year-old boy suggests a potential connection between extensive congenital DM and MPS type IIIC, raising questions about mild phenotypic expressions in carriers of lysosomal storage disorders (LySD).
Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Ann Indian Acad Neurol
March 2021
Centre of Rare Disease, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
Introduction: Lysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician.
Objectives: This study aims to highlight the more common type of LSDs, their frequency, clinical spectrum and outcome from Rare disease centre in Rajasthan.
Methods: The retrospective data were collected including clinical profile, investigations, screening test and enzyme analysis results.
Hurler Phenotype with Vacuolated Lymphocytes and Elevated Lysosomal Hydrolases - Is it Mucolipidosis?
Neurol India
November 2021
Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
BMC Med Genet
September 2018
Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong Special Administrative Region, China.
Background: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disruptions of hydrolase mannose 6-phosphate marker generation, defective lysosomal targeting and subsequent intracellular accumulation of non-degraded material. Clinical severity depends on residual GlcNAc-1-phosphotransferase activity, which distinguishes between the milder type III disease and the severe, neonatal onset type II disease.
View Article and Find Full Text PDFMucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology.
Arch Rheumatol
March 2018
Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children's Health and Diseases Research and Education Hospital, Ankara, Turkey.
Mucolipidoses are metabolic disorders with autosomal recessive inheritance caused by deficiency of N-acetylglucosamine- 1-phosphotransferase leading to accumulation of glycosaminoglycans and sphingolipids intracellularly. The differential diagnosis of mucolipidosis II or III is based on the age of onset, clinical findings and degree of severity. In this article, we present four pediatric patients with mucolipidosis III or pseudo-Hurler polydystrophy who admitted to our hospital with joint stiffness.
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