Development of a Cellular Model for Morquio A Syndrome

2013 ◽  
Author(s):  
Virgen Sierra
Keyword(s):  
Cellular Model ◽  
Morquio A ◽  
Morquio A Syndrome

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

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sebile Kılavuz ◽  
Sibel Basaran ◽  
Deniz Kor ◽  
Fatma Derya Bulut ◽  
Sevcan Erdem ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Data ◽  
Treatment Initiation ◽  
Case Series ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Over Time ◽  
Morquio A Syndrome

Abstract 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. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density). Results At the time of ERT initiation, two patients were infants (1.8 and 2.1 years), five were children (3.4–7.1 years), and three were adults (16.5–39.5 years). Patients had up to 4 years follow-up. Most patients had classical Morquio A, based on genotypic and phenotypic data. Endurance was considerably reduced in all patients, but remained relatively stable or increased over time in most cases after treatment initiation. Length/height fell below normal growth curves, except in the two infants who started ERT at ≤ 2.1 years of age. All patients had skeletal and/or joint abnormalities when ERT was started. Follow-up data did not suggest improvements in skeletal abnormalities, except in one of the younger infants. Nine patients had corneal clouding, which resolved after treatment initiation in the two infants, but not in the other patients. Hepatomegaly was reported in seven patients and resolved with treatment in five of them. Other frequent findings at treatment initiation were coarse facial features (N = 9), hearing loss (N = 6), and cardiac abnormalities (N = 6). Cardiac disease deteriorated over time in three patients, but did not progress in the others. Conclusions Overall, this case series with Morquio A patients confirms clinical trial data showing long-term stabilization of endurance after treatment initiation across ages and suggest that very early initiation of ERT optimizes growth outcomes.

scholarly journals Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

2015 ◽  
Vol 3 ◽  
pp. 232640981557618 ◽  
Author(s):  
Christina Lampe ◽  
Mohit Jain ◽  
Andrew Olaye ◽  
Bianca Meesen ◽  
Celeste Decker ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Patient Reported Outcomes ◽  
Morquio A ◽  
Patient Reported ◽  
Morquio A Syndrome

scholarly journals School skills and neuropsychological functioning in Morquio A Syndrome and Maroteaux Lamy Syndrome adolescents, in Bogotá, Colombia

2017 ◽  
Vol 381 ◽  
pp. 193 ◽  
Author(s):  
N.N. Ibáñez Castañeda ◽  
N.N. Castañeda Ibáñez ◽  
M.A. Mora Matallana ◽  
M.A. Prado Rivera ◽  
A. Rizo Arévalo ◽  
...  
Keyword(s):  
Neuropsychological Functioning ◽  
Morquio A ◽  
Morquio A Syndrome

A retrospective study on sleep-disordered breathing in Morquio-A syndrome

2018 ◽  
Vol 176 (12) ◽  
pp. 2595-2603
Author(s):  
Giulia Facchina ◽  
Alessandro Amaddeo ◽  
Geneviève Baujat ◽  
Sylvain Breton ◽  
Caroline Michot ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Sleep Disordered Breathing ◽  
Morquio A ◽  
Morquio A Syndrome ◽  
Disordered Breathing

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

1997 ◽  
Vol 10 (3) ◽  
pp. 223-232 ◽  
Author(s):  
Susanna Bunge ◽  
Wim J. Kleijer ◽  
Anna Tylki-Szymanska ◽  
Cordula Steglich ◽  
Michael Beck ◽  
...  
Keyword(s):  
Allelic Heterogeneity ◽  
Novel Mutations ◽  
Morquio A ◽  
Morquio A Syndrome

scholarly journals Overcoming the barriers to diagnosis of Morquio A syndrome

2014 ◽  
Vol 9 (1) ◽  
Author(s):  
Kaustuv Bhattacharya ◽  
Shanti Balasubramaniam ◽  
Yew Sing Choy ◽  
Michael Fietz ◽  
Antony Fu ◽  
...  
Keyword(s):  
Morquio A ◽  
Morquio A Syndrome

scholarly journals Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center

2020 ◽  
Vol 25 ◽  
pp. 100679
Author(s):  
Andrés Felipe Erazo-Narváez ◽  
Juan Manuel Muñoz-Vidal ◽  
Guillermo Hernando Rodríguez-Vélez ◽  
María Amparo Acosta-Aragón
Keyword(s):  
Elderly Patients ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Outcomes ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Morquio A Syndrome

scholarly journals Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study

2015 ◽  
Vol 167 (10) ◽  
pp. 2272-2281 ◽  
Author(s):  
Barbara K. Burton ◽  
Kenneth I. Berger ◽  
Gregory D. Lewis ◽  
Mark Tarnopolsky ◽  
Marsha Treadwell ◽  
...  
Keyword(s):  
Pilot Study ◽  
Physiological Effects ◽  
Double Blind ◽  
Morquio A ◽  
Different Doses ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

scholarly journals Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

2016 ◽  
Vol 39 (6) ◽  
pp. 839-847 ◽  
Author(s):  
Christian J. Hendriksz ◽  
Kenneth I. Berger ◽  
Rossella Parini ◽  
Moeenaldeen D. AlSayed ◽  
Julian Raiman ◽  
...  
Keyword(s):  
Respiratory Function ◽  
Morquio A ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa
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