Results 21 to 30 of about 15,739 (180)

Delivering gene therapy for mucopolysaccharide diseases

Frontiers in Molecular Biosciences, 2022
Mucopolysaccharide diseases are a group of paediatric inherited lysosomal storage diseases that are caused by enzyme deficiencies, leading to a build-up of glycosaminoglycans (GAGs) throughout the body.
Shaun R. Wood, Brian W. Bigger
doaj   +1 more source

Mucopolysaccharidoses: A rare cause for bilateral cloudy cornea

Journal of Clinical Ophthalmology and Research, 2017
There are many different causes for corneal clouding/opacification which include both local ophthalmic causes as well as systemic causes. Mucopolysaccharidosis is a rare cause. Hence, we present a case of mucopolysaccharidosis type IV, who presented with
Jayshri Vipin Ekhar, Piyush Ashok Madan, Samreen Ayubi, Dipti Solanki   +3 more
doaj   +1 more source

Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family

The Turkish Journal of Pediatrics, 2018
Mucopolysaccharidosis (MPS) type I is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. MPS I is divided into three subtypes based on the severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndrome ...
Songül Gökay, Fatih Kardaş, Mustafa Kendirci, Betül Sözeri   +3 more
doaj   +1 more source

MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS

Вопросы современной педиатрии, 2014
Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes.
N. V. Buchinskaya, I. А. Chikova, E. А. Isupova, О. V. Kalashnikova, М. М. Kostik, V. G. Chasnyk   +5 more
doaj   +1 more source

Audiologic evaluations of children with mucopolysaccharidosis

Brazilian Journal of Otorhinolaryngology
INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG).
Çağil Gökdoğan, Senay Altinyay, Ozan Gökdoğan, Hakan Tutar, Bülent Gündüz, Ilyas Okur, Leyla Tümer, Yusuf Kemal Kemaloğlu   +7 more
doaj   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I.

PLoS ONE, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Omar Khalid, Moin U Vera, Philip L Gordts, N Matthew Ellinwood, Philip H Schwartz, Patricia I Dickson, Jeffrey D Esko, Raymond Y Wang   +7 more
doaj   +1 more source

Mucopolysaccharidosis: A broad review

Indian Journal of Ophthalmology, 2022
Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent deficiency of the enzymes responsible for the degradation of glycosaminoglycans (GAGs). Defective breakdown of GAG products leads to their widespread accumulation within the lysosomes of various organs involving the eye ...
Ritu Nagpal, Ram Bharos Goyal, K Priyadarshini, Seema Kashyap, Mohita Sharma, Rajesh Sinha, Namrata Sharma   +6 more
openaire   +3 more sources

Spine radiograph in dysplasias: A pictorial essay

Indian Journal of Radiology and Imaging, 2020
Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more ...
Pavan Gabra, Manisha Jana, Priyanka Naranje, Neerja Gupta, Madhulika Kabra, Arun K Gupta, Richa Yadav   +6 more
doaj   +1 more source

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings

Diagnostics, 2020
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman   +8 more
doaj   +1 more source

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source