Results 101 to 110 of about 8,642 (245)

Hematopoietic stem cell transplantation in pediatric patients with type VI mucopolysaccharidosis [PDF]

Clinical and Experimental Pediatrics
Background It is uncertain whether hematopoietic stem cell transplantation (HSCT), versus standard enzyme replacement therapy (ERT), is effective for type VI mucopolysaccharidosis (MPS VI).
Vedat Uygun, Koray Yalçın, Hayriye Daloğlu, Seda Öztürkmen, Suna Çelen, Suleimen Zhumatayev, Gülsün Karasu, Akif Yeşilipek   +7 more
doaj   +1 more source

Treatment of Neuronopathic Mucopolysaccharidoses with Blood–Brain Barrier-Crossing Enzymes: Clinical Application of Receptor-Mediated Transcytosis [PDF]

, 2022
Hiroyuki Sonoda, Kenichi Takahashi, Kohtaro Minami, Toru Hirato, Tatsuyoshi Yamamoto, Sairei So, Kazunori Tanizawa, Mathias Schmidt, Yuji Sato   +8 more
openalex   +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
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Respiratory and sleep disorders in mucopolysaccharidosis [PDF]

, 2012
MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues.
Ciarán McArdle, David M. Rapoport, Karen A. Hardy, Kenneth I. Berger, Kuo Sheng Lee, Martin J. Tobin, Maurizio Scarpa, Roberto Giugliani, Simone C. Fagondes, Susan A. Ward   +9 more
core   +1 more source

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses

Türk Oftalmoloji Dergisi, 2020
The mucopolysaccharidoses are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intracellular and extracellular accumulation of glycosaminoglycans.
Yalçın Karaküçük, Banu Bozkurt, Merve Şahin, Süleyman Okudan   +3 more
doaj   +1 more source

Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine‐impregnated paper: preliminary results of an improved DMB‐based procedure [PDF]

, 2010
J.R. Alonso Fernández, Javier Fidalgo, Cristobal Colón   +2 more
openalex   +1 more source

The mucopolysaccharidoses and anaesthesia: a report of clinical experience [PDF]

, 1988
Ian A. Herrick, Elliot J. Rhine
openalex   +1 more source

Dysregulation of genes coding for proteins involved in metabolic processes in mucopolysaccharidoses, evidenced by a transcriptomic approach [PDF]

, 2023
Karolina Pierzynowska, Patrycja Deresz, Grzegorz Węgrzyn, Lidia Gaffke   +3 more
openalex   +1 more source

Use of new imaging in detecting and monitoring ocular manifestations of the mucopolysaccharidoses [PDF]

, 2016
Ahmed Javed, Tariq Aslam, Jane Ashworth
openalex   +1 more source

Plan de cuidados de enfermería y recomendaciones al alta en el paciente pediátrico con mucopolisacaridosis [PDF]

, 2016
Las Mucopolisacaridosis son un conjunto de enfermedades metabólicas hereditarias en las que existe un déficit de una de las once enzimas lisosomales que intervienen en el catabolismo de los glucosaminoglicanos, que se acumulan en los lisosomas de las ...
Urueña Valle, Sandra
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