Results 71 to 80 of about 3,483 (174)

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

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

Mucopolysaccharidoses and anaesthesia [PDF]

Canadian Journal of Anaesthesia, 1988
David Baines, John Keneally, Ian A. Herrick, Elliot J. Rhine   +3 more
openaire   +2 more sources

Mucopolysaccharidoses (MPS) [PDF]

Journal of Inherited Metabolic Disease, 2013
openaire   +2 more sources

Lysosomes and mucopolysaccharidoses [PDF]

Biochemical Journal, 1969
H G, Hers, F, van Hoof
openaire   +2 more sources

Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease

Brain Sciences
Background: The mucopolysaccharidoses (MPSs) are very rare lysosomal diseases. MPSs belong to inherited diseases; however, newborns are usually asymptomatic. A deficiency of one of the enzymes, which is responsible for glycosaminoglycan (GAG) catabolism,
Anna Waśniewska-Włodarczyk, Renata Pepaś, Oskar Rosiak, Wiesław Konopka   +3 more
doaj   +1 more source

Mucopolysaccharidoses and mucolipidoses [PDF]

Journal of Clinical Pathology, 1974
openaire   +3 more sources

A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers. [PDF]

Cardiovasc Diagn Ther
Nguyen TL, Semyachkina AN, Voinova VY, Shkolnikova MA, Luong TA, Le HK, Reznik EV.   +6 more
europepmc   +1 more source

A Rare Case of Mucopolysaccharidosis Presenting With Dysostosis Multiplex and Preserved Intelligence in a Seven-Year-Old Girl From Northeast India. [PDF]

Cureus
Roy P, Roy P.
europepmc   +1 more source