Results 11 to 20 of about 25,294 (214)

Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program. [PDF]

Anim Genet
ABSTRACT Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo‐Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the ...
Bezerra FCM, Belli LSBP, Novais JMCB, Ibelli AMG, Santos CRO, Gouveia GV, Macedo ATM, Gouveia JJS.   +7 more
europepmc   +2 more sources

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB. [PDF]

JIMD Rep
ABSTRACT Mucopolysaccharidosis Type IV is a multisystem lysosomal storage disease characterized by severe skeletal dysplasia resulting from impaired degradation of the glycosaminoglycans keratan sulfate and chondroitin‐6‐sulfate. The condition is classified into Types A and B based on the underlying enzyme deficiency.
Wijnen M, van Velsen EFS, Milhous JG, Oussoren E, van der Eerden BCJ, Wagenmakers MAEM.   +5 more
europepmc   +2 more sources

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes. [PDF]

Vet Med Sci
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Kakalar ME, Dezhban FF, Zamani A, Razlighi SS.   +3 more
europepmc   +2 more sources

Mucopolysaccharidosis

Taiwan Journal of Ophthalmology, 2023
Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associated with multiple organ systems, such as the ...
Kusumitha Bhakthaganesh, Manumuraleekrishna, Murugesan Vanathi, Shifa Ahmed, Noopur Gupta, Radhika Tandon   +5 more
openaire   +3 more sources

Mucopolysaccharidosis [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2015
The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and ...
Nicole Ruas Guarany PhD, Ana Paula Vanz MD, Matheus Vernet Machado Bressan Wilke, Daniele Dorneles Bender, Mariana Dumer Borges, Roberto Giugliani PhD, Ida Vanessa Doederlein Schwartz PhD   +6 more
openaire   +4 more sources

Mucopolysaccharidosis VI [PDF]

Orphanet Journal of Rare Diseases, 2010
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births.
Harmatz Paul, Nicely Helen, Valayannopoulos Vassili, Turbeville Sean   +3 more
openaire   +3 more sources

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]

, 2016
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I, Lund, Troy C, Miller, Weston P, Orchard, Paul J, Pasquali, Marzia, Polgreen, Lynda E, Raymond, Gerald V   +6 more
core   +1 more source

Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery

Biomedicines, 2021
Lysosomal storage disorders (LSDs) represent a complex and heterogeneous group of rare genetic diseases due to mutations in genes coding for lysosomal enzymes, membrane proteins or transporters.
Laura Rigon, Concetta De Filippis, Barbara Napoli, Rosella Tomanin, Genny Orso   +4 more
doaj   +1 more source

International guidelines for the management and treatment of Morquio A syndrome. [PDF]

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]

, 2017
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia, Kunin-Batson, Alicia, Polgreen, Lynda E, Rudser, Kyle, Utz, Jeanine J, Vehe, Richard K, Whitley, Chester B   +6 more
core   +3 more sources