Results 81 to 90 of about 1,770 (187)

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Pain management challenges in a patient with mucopolysaccharidosis IVA

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
wiley   +1 more source

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

, 2022
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome.
Jain, Angita, Ahuja, Abhimanyu S., Cheema, Anvir, Abbott, Jessica, Bruno, Katelyn A., Atwal, Paldeep S., Selvam, Pavalan, Caulfield, Thomas, Forghani, Irman, Atwal, Herjot   +9 more
core   +1 more source

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

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  

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

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

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB

, 1977
A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome.
Stevenson, R E, Arbisser, A I, DiFerrante, N, Howell, R R, Scott, Jr, C I, Singh, J, Aylesworth, A S, Donnelly, K A   +7 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  

Intellectual and neurological functioning in Morquio syndrome (MPS IVa).

, 2012
Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3).
Kearney, S, J. Horton, A. C. Peet, C. J. Hendriksz, Horton, J, Peet, Andrew, S. Kearney, Davison, James, J. E. Davison, Foster, K, K. Foster, Hendriksz, CJ   +11 more
core   +1 more source