Results 41 to 50 of about 1,760 (179)

Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks

, 2023
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6 ...
Andrés Felipe Leal, Carlos Javier Alméciga-Díaz, Shunji Tomatsu   +2 more
core   +2 more sources

Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center [PDF]

Genetics and Molecular Biology, 2020
Mucopolysaccharidoses (MPS) are a group of genetic disorders, each resulting from the deficiency of one of the lysosomal enzymes that catabolizes mucopolysaccharides.
Sandra del Carmen Mendoza-Ruvalcaba, Aniel Jessica Leticia Brambila-Tapia, Jesús Alejandro Juárez-Osuna, Thiago Donizete Da Silva-José, José Elías García-Ortiz   +4 more
doaj   +2 more sources

Bone Growth Induction in Mucopolysaccharidosis IVA Mouse

, 2023
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is caused by a deficiency of the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) enzyme, leading to the accumulation of glycosaminoglycans (GAG), keratan sulfate (KS) and chondroitin-6-sulfate ...
Nidhi, Fnu, Celik, Betul, Herreño-Pachón, Angélica María, Rintz, Estera, Benincore-Flórez, Eliana, Tomatsu, Shunji, Khan, Shaukat   +6 more
core   +2 more sources

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

Orphanet Journal of Rare Diseases, 2022
Background Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans.
Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe   +17 more
doaj   +1 more source

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

JIMD Reports, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, N‐acetylgalactosamine 6‐sulphatase (GALNS).
Sharon J. Chin, Jennifer T. Saville, Belinda K. McDermott, Andreas Zankl, Janice M. Fletcher, Maria Fuller   +5 more
doaj   +1 more source

Baseline Biometric Characteristics of MPS IVA Patients (n = 54).

, 2016
Baseline Biometric Characteristics of MPS IVA Patients (n = 54).
Christina Lampe (426094), Tariq Abu-Tair (3112209), Seyfullah Gökce (3112203), Christiane M. Wiethoff (3112206), Eugen Mengel (670324), Jörg Reinke (3112215), Christoph Kampmann (3112212), Julia B. Hennermann (792374)   +7 more
core   +1 more source

Valve Involvement in MPS IVA Patients (n = 54).

, 2016
Valve Involvement in MPS IVA Patients (n = 54).
Christina Lampe (426094), Tariq Abu-Tair (3112209), Seyfullah Gökce (3112203), Christiane M. Wiethoff (3112206), Eugen Mengel (670324), Jörg Reinke (3112215), Christoph Kampmann (3112212), Julia B. Hennermann (792374)   +7 more
core   +1 more source

Role of elosulfase alfa in mucopolysaccharidosis IVA

, 2016
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier, Debra S., Tanpaiboon, Pranoot, Regier DS, Tanpaiboon P   +3 more
core   +1 more source

Atmospheric Deposition of Organic Pollutants: A Comprehensive Review of Sampling and Analytical Methodologies

Analytical Science Advances, Volume 7, Issue 1, June 2026.
ABSTRACT Atmospheric deposition of organic pollutants plays a crucial role in the transport and fate of contaminants in the environment, with implications for ecosystem health and human exposure. Persistent organic pollutants (POPs), polycyclic aromatic hydrocarbons (PAHs) and microplastics are increasingly recognized as transboundary threats due to ...
Iva Smoljo, Gordana Mendaš, Gordana Pehnec   +2 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source