Results 71 to 80 of about 3,016 (187)

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study

JIMD Reports, Volume 65, Issue 2, Page 63-84, March 2024.
Abstract Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens.
Nahya Awada, Martin Holcik
wiley   +1 more source

Anaesthesia and airway management in mucopolysaccharidosis [PDF]

, 2013
This paper provides a detailed overview and dis-cussion of anaesthesia in patients with mucopolysacchari-dosis (MPS), the evaluation of risk factors in these patients and their anaesthetic management, including emergency airway issues.
A Hirth, A John, AM Martins, AM McLaughlin, AM Rovelli, AO Ransford, AR Alpöz, Barbara Valdemarsson, C Moores, CF Wippermann, CJ Pelley, CM Myer III, E Dilber, EA Braunlin, EA Braunlin, Elizabeth A. Braunlin, G Miller, GL Semenza, GN Leal, Guirish A. Solanki, Henrik Hack, HS Jeong, HS Sims, I Misumi, Iain A. Bruce, J Muenzer, JA Thorne, JE Wraith, JH Dangel, K Kirkpatrick, KG Belani, Kumar G. Belani, L Broek Van den, LA Fleisher, MA Simmons, MC Theroux, MS Kurdi, MS Muhlebach, NJ Mendelsohn, P Arn, P Arn, Paul R. Harmatz, PJ Orchard, PM Ingelmo, PP Walker, R Giugliani, R Nagano, R Rowe, Richard Rowe, RO Bonow, Robert Walker, RWM Walker, RWM Walker, RWM Walker, SD Murgu, SEJ Leighton, Simon Jones, SL Shih, SM Wold, T Hishitani, TR Kimball, U Linstedt, UR Mohan, V Fesslová, V Tandon, V Valayannopoulos, W Kamin, WJ Buhain   +67 more
core   +4 more sources

A 5‐year‐old boy with super‐refractory status epilepticus and RANBP2 variant warranting life‐saving hemispherotomy

Epilepsia Open, Volume 9, Issue 1, Page 424-431, February 2024.
Abstract Focal cortical dysplasia (FCD) represents the most common cause of drug‐resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug‐resistant epilepsy evolving in super‐refractory status ...
Barbora Straka, Miroslav Koblížek, Barbora Splítková, Radka Valkovičová, Lenka Krsková, Markéta Kalinová, Markéta Vlčková, Josef Zámečník, Petra Laššuthová, Lucie Sedláčková, David Staněk, Alice Maulisová, Michal Tichý, Martin Kynčl, Pavel Kršek   +14 more
wiley   +1 more source

Current and emerging management options for patients with Morquio A syndrome

Therapeutics and Clinical Risk Management, 2013
Mohamed F Algahim, G Hossein AlmassiDivision of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USAAbstract: Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the
Algahim MF, Almassi GH
doaj  

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

Orphanet Journal of Rare Diseases, 2021
Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records.
Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Atil Bisgin, Halise Neslihan Önenli Mungan   +8 more
doaj   +1 more source

Fetal gene therapy

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 192-210, January 2024.
Abstract Fetal gene therapy was first proposed toward the end of the 1990s when the field of gene therapy was, to quote the Gartner hype cycle, at its “peak of inflated expectations.” Gene therapy was still an immature field but over the ensuing decade, it matured and is now a clinical and market reality. The trajectory of treatment for several genetic
Simon N. Waddington, William H. Peranteau, Ahad A. Rahim, Ashley K. Boyle, Manju A. Kurian, Paul Gissen, Jerry K. Y. Chan, Anna L. David   +7 more
wiley   +1 more source

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? [PDF]

, 2012
BACKGROUND: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin,
Clewing, JM, Gormley, AK, Hendson, G, Mayfield, C, Morimoto, M, Najafian, B, Saraiva, JM, Stenzel, P, Weinkauf, JG, Yu, Z   +9 more
core   +1 more source

SÍNDROME DE MORQUIO (MUCOPOLISACARIDOSIS TIPO IV) Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2005
Se presenta el caso de una paciente embarazada, portadora de Síndrome de Morquio (Mucopolisacaridosis tipo IV), que evoluciona con polihidroamnios y disnea.
Hugo Salinas P., Jessica Preisler R., Julio Astudillo D., Sergio Cerda S.M., Silvia Castillo T., Flor Fernández S., Rodolfo Ide V.   +6 more
doaj  

Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012
Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides).
P Rekka, P V Rathna, S Jagadeesh, S Seshadri   +3 more
doaj   +1 more source

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries

Orphanet Journal of Rare Diseases, 2022
Background Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase.
Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe   +8 more
doaj   +1 more source