Results 81 to 90 of about 2,011 (197)
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 +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
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 +8 more
doaj +1 more source
Activity of daily living for Morquio A syndrome [PDF]
Molecular Genetics and Metabolism, 2016 The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index.
Eriko, Yasuda +24 more
openaire +2 more sources
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 +7 more
wiley +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. +6 more
doaj
Revista de la Facultad de Ciencias de la Salud, 2010 We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is ...
Ivonne Alejandra Meza +1 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2017 Background This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evaluated in an open-
D. Hughes +8 more
doaj +1 more source
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 +3 more
doaj +1 more source
Morquio’s Syndrome: A Case Report of Two Siblings
Case Reports in Dentistry, 2017 Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities.
Sathish Muthukumar Ramalingam +4 more
doaj +1 more source