Mucopolysaccharidoses

R Giugliani - Emery and Rimoin's Principles and Practice of Medical …, 2021 - Elsevier
The mucopolysaccharidoses (MPSs) are inherited disorders of the metabolism of the
glycosaminoglycans (GAGs), caused by the deficiency of enzymes involved in the stepwise …

The mucopolysaccharidoses

G Parenti, R Giugliani - Physician's guide to the diagnosis, treatment, and …, 2022 - Springer
The mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism caused by
the deficiency of lysosomal hydrolases that degrade glycosaminoglycans (GAGs). These …

Misdiagnosis in mucopolysaccharidoses

K Wiśniewska, J Wolski, L Gaffke, Z Cyske… - Journal of Applied …, 2022 - Springer
Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in
humans (or 14 diseases if considering one MPS type described to date only in mice) in …

[引用][C] Mucopolysaccharidoses

JE Wraith - Current Paediatrics, 1996 - Elsevier
The mucopolysaccharidoses (MPS) are a family of inherited metabolic disorders caused by
a deficiency of specific lysosomal enzymes. Excess accumulation within the cells of partially …

A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of …

G Wȩgrzyn, A Wȩgrzyn, A Tylki-Szymańska - Medical hypotheses, 2004 - Elsevier
Mucopolysaccharidoses are rare genetic diseases from the group of lysosomal storage
disorders caused by deficiency of enzymes involved in degradation of mucopolysaccharides …

Overview of the mucopolysaccharidoses

J Muenzer - Rheumatology, 2011 - academic.oup.com
The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage
disorders that are clinically characterized by abnormalities in multiple organ systems and …

Newborn screening for mucopolysaccharidoses: opinions of patients and their families

IM Hayes, V Collins, M Sahhar, JE Wraith… - Clinical …, 2007 - Wiley Online Library
We have conducted a study to assess the opinions of parents of individuals with
mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for …

Mucopolysaccharidoses. Genetics, clinical pathology, therapeutic regimes

R Warzok, G Seidlitz - Zentralblatt fur Pathologie, 1992 - europepmc.org
In recent years, several clinical and biochemical studies have been published contributing to
better understanding of mucopolysaccharide storage diseases. Our purpose, therefore, is, to …

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

T Vieira, I Schwartz, V Munoz, L Pinto… - American Journal of …, 2008 - Wiley Online Library
Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized
by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path …

Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS

S Byers, T Rozaklis, LK Brumfield, E Ranieri… - Molecular genetics and …, 1998 - Elsevier
A combination of anion-exchange chromatography and 30–40% gradient polyacrylamide
gel electrophoresis (gradient-PAGE) was used to purify and characterize urinary …