Results 81 to 90 of about 1,965 (163)

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Genetics and Molecular Biology, 2019
Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs).
Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal   +8 more
doaj   +1 more source

From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly–Arthropathy–Coxa Vara–Pericarditis Syndrome—A Case‐Based Review

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by PRG4 mutations that impair lubricin production. Resulting noninflammatory hyperplasia produces congenital or early‐onset camptodactyly and noninflammatory arthropathy, affecting large joints.
Ana Luiza Garcia Cunha, Isabela Tavares Barretos Matias, Matheus Santos França, Joziele de Souza Lima, Andrea Scaramuzza   +4 more
wiley   +1 more source

Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective

, 2017
OBJECTIVE: To describe visual outcomes after penetrating keratoplasty and deep anterior lamellar keratoplasty in patients with mucopolysaccharidoses. METHODS: This is a retrospective review of keratoplasty in consecutive patients from Brazil, England ...
Pitz, S., Marinho, DR, Ashworth, J, Ohden, KL, Magalhaes, A, Lindahl, P, Teär Fahnehjelm, Kristina,, Magalhaes, A., Fahnehjelm, KT, Ashworth, J., Marinho, D. R., Ohden, K. L., Lindahl, P., Pitz, S, Summers, CG, Summers, C. G.   +15 more
core   +1 more source

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

, 2021
Background: Mucopolysaccharidoses are extremely rare, progressive, often severe multi-system disorders, some of which are managed by weekly intravenous enzyme replacement therapy.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, H. Serap Sivri   +3 more
core   +1 more source

Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review

Therapeutics and Clinical Risk Management, 2022
Cecilia Lazea,1,2 Camelia Al-Khzouz,1,3 Crina Sufana,2 Diana Miclea,3,4 Carmen Asavoaie,5 Ioana Filimon,5 Otilia Fufezan5 1Department Mother and Child, University of Medicine and Pharmacy “Iuliu Hatieganu”, Cluj-Napoca, Romania; 2Department of Pediatrics
Lazea C, Al-Khzouz C, Sufana C, Miclea D, Asavoaie C, Filimon I, Fufezan O   +6 more
doaj  

Melatonin in sleep disturbances of the mucopolysaccharidoses

, 1998
The experience of treatment with melatonin to treat sleep disturbances in patients with mucopolysaccharidoses is herein ...
Ricci, Roberta, Rigante, Donato, Segni, Giuseppe   +2 more
core  

Anesthetic management of a child with Hunter′s syndrome

Journal of Anaesthesiology Clinical Pharmacology, 2012
Hunter′s syndrome is a member of a group of recessively inherited metabolic disorders termed mucopolysaccharidoses, caused by deficiency of lysosomal enzymes required for degradation of mucopolysaccharides or glycosaminoglycans, leading to accumulation ...
Jasmeet Kaur, Adarsh C Swami, Amit Kumar, Sneh Lata   +3 more
doaj   +1 more source

Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses

, 2016
The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by the progressive systemic deposition of Glycosaminoglycans (GAGs). GAGs accumulate in the myocardium and the cardiac valves. Enzyme Replacement Therapy (ERT)
Selim, Abeer, Elbadawy, Amera, Salama, Emad, Gamaleldin, Iman, Selim, Laila, Ibrahim, Mohamed, Abdelhamid, Nehal   +6 more
core   +1 more source

Use of Implantable Venous Port Systems in the Treatment of Children with Orphan Diseases (Mucopolysaccharidosis and Pompe Disease): Case Series

Вопросы современной педиатрии, 2015
Many orphan diseases in children require life-long and regular intravenous enzyme replacement therapy. The article describes the first Russian practice of implanting venous port systems in 12 patients with type I and II mucopolysaccharidosis and Pompe ...
M. Yu. Rykov, I. V. Filinov, E. I. Petrov, N. D. Vashakmadze, A. K. Gevorkyan, E. N. Arkhipova, I. V. Sil’nova, E. N. Basargina, N. V. Buchinskaya, A. I. Ivanov, E. A. Isupova, M. M. Kostik, N. A. Abramova, O. V. Kalashnikova, V. G. Chasnyk, A. E. Aleksandrov, D. A. Morozov, V. G. Polyakov   +17 more
doaj   +1 more source

Achados anatomo-patológicos e ultraestruturais na mucopoussacaridose: relato de caso Anatomo-pathological and ultrastructural features in mucopolysaccharidosis: case report

Arquivos de Neuro-Psiquiatria, 1997
As mucopolissacaridoses (MPS) são doenças de acúmulo lisossomal em que ocorre defeito enzimático específico com consequente acúmulo de glicosaminoglicanos nos tecidos.
Luiz Fernando Bleggi Torres, Lúcia de Noronha, Graciela Vanessa Vicelli Jacob, Sérgio Antoniuk   +3 more
doaj   +1 more source