Results 11 to 20 of about 1,451,354 (224)

Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12

Stem Cell Research, 2023
We generated two human induced pluripotency stem cell (hiPSC) lines, RCMGi011-A and 11-B, from skin fibroblast from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 using non-integrating, viral CytoTune ...
I.O. Panchuk, O.V. Grigorieva, E.V. Kondrateva, E.V. Kurshakova, VYu. Tabakov, I.O. Bychkov, EYu. Zakharova, M.D. Orlova, E.S. Voronina, V.O. Pozhitnova, A.V. Lavrov, S.A. Smirnikhina, S.I. Kutsev   +12 more
doaj   +2 more sources

Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Mucopolysaccharidosis IV-A (MPS IV-A) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Mariana Ardila Marín, Carlos Arturo Caicedo Toro, Jeyson Steven Rojas Banguero, José María Satizabal Soto, Daniela Arturo Terranova   +4 more
doaj   +2 more sources

Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile. [PDF]

Mol Syndromol, 2023
Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and ...
Cárdenas JM, Vergara D, Witting S, Balut F, Guerra P, Mesa JT, Silva S, Tello J, Retamales Á, Barrios A, Pinto F, Faundes V, Troncoso M.   +12 more
europepmc   +2 more sources

Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up

Case Reports in Dentistry, 2020
Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans.
Andrea Gómez-González, Miguel Ángel Rosales-Berber, Paola De Ávila-Rojas, Amaury Pozos-Guillén, Arturo Garrocho-Rangel   +4 more
doaj   +2 more sources

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +2 more sources

Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

Journal of Inborn Errors of Metabolism and Screening, 2020
Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies are among the earliest clinical manifestations.
Lina Johanna Moreno Giraldo, Daniela Arturo-Terranova, José María Satizábal Soto   +2 more
doaj   +2 more sources

Clinical and oral characteristics in patients affected by mucopolysaccharidosis type IV – A: Case reports

Revista de Odontopediatria Latinoamericana
Introduction: Mucopolysaccharidoses are rare diseases related to chronic metabolic conditions caused by a genetic mutation that results in the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans, causing alterations in ...
Marcela Favaretto Paro Pereira, Gabriela Leal Peres Fernandes, Isabella Silva Catananti , Eduarda Martins Fontes Cantarella de Almeida , Laura Imbriani Bento de Azevedo, Manuela Marquesini Vanim, Marcelle Danelon   +6 more
doaj   +2 more sources

Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108. [PDF]

Diagnostics (Basel), 2020
The authors wish to make the following correction to this paper [...].
Barak S, Anikster Y, Sarouk I, Stern E, Eisenstein E, Yissar T, Sherr-Lurie N, Raas-Rothschild A, Guttman D.   +8 more
europepmc   +2 more sources

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +2 more sources

A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis. [PDF]

Surg Neurol Int
Background: Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal genetic storage disorder caused by the accumulation of glycosaminoglycans in tissues and organs.
Hashimoto J, Kawasaki T, Kobayashi T, Ioroi Y, Takayama M.   +4 more
europepmc   +2 more sources