Results 81 to 90 of about 796 (126)

Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants. [PDF]

J Biol Chem
Rue BE, Dischler AM, Salvagio LA, Zhu M, Xu G, Flores PC, Donovan CL, Liu X, Minckley TF, Agulnek B, Qin Y.   +10 more
europepmc   +1 more source

Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review. [PDF]

J Inherit Metab Dis
Gillan EM, Leiro B, Nagy A, Eichler F, Townsend EL.   +4 more
europepmc   +1 more source

A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases. [PDF]

J Pharm Anal
Yen NTH, Tien NTN, Thu NQ, Ducatez F, Mauhin W, Lidove O, Bekri S, Tebani A, Long NP.   +8 more
europepmc   +1 more source

Mucopolysaccharidoses and mucolipidoses

Handbook of Clinical Neurology / Edited By P J Vinken and G W Bruyn, 2013
The mucopolysaccharidoses (MPS) and mucolipidoses (ML) are progressive storage disorders that share many clinical features varying from facial dysmorphism, bone dysplasia, hepatosplenomegaly, neurological abnormalities, developmental regression, and a reduced life expectancy at the severe end of the clinical spectrum to an almost normal clinical ...
James Edmond Wraith
exaly   +4 more sources

The mucolipidoses

, 2020
Dena R. Matalon, Kimberlee Michals Matalon, Reuben Matalon   +2 more
exaly   +3 more sources

The Mucolipidoses

, 2015
The mucolipidoses (I,II,III) have been recognized as a separate entity of diseases by Spranger and Wiedemann (1970) who separated them on the basis of biochemical, histological and clinical findings from the group of the mucopolysaccharidoses. Mucolipidosis I was first described in 1968 by Spranger et al. under the name lipomucopolysaccharidosis.
Reuben Matalon, Kimberlee Michals Matalon   +1 more
core   +5 more sources

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The Genetic Mucolipidoses

Neuropediatrics, 1970
This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”.
H -R Wiedemann
exaly   +5 more sources

Genome editing in mucopolysaccharidoses and mucolipidoses

Progress in Molecular Biology and Translational Science, 2021
Mucopolysaccharidoses (MPS) and mucolipidoses (ML) are disorders that alter lysosome function. While MPS are caused by mutation in enzymes that degrade glycosaminoglycans, the ML are disorders characterized by reduced function in the phosphotransferase enzyme.
Edina Poletto, Guilherme Baldo, Ursula Matte   +2 more
exaly   +3 more sources

Mucolipidoses—II: a report of three cases

Indian Journal of Pediatrics, 1995
Mucolipidoses II is a rare lysosomal storage disorder with autosomal recessive inheritance. There cases with typical clinical features in early infancy like coarse facial features, severe psychomotor retardation and joint contractures are being reported. All the cases had no mucopolysacchariduria.
S G, Lalwani, A, Kher, N, Shridhar, B A, Bharucha, G G, Naik   +4 more
exaly   +3 more sources

CARPAL TUNNEL SYNDROME IN THE MUCOPOLYSACCHARIDOSES AND MUCOLIPIDOSES

Journal of Bone and Joint Surgery: British Volume, 1997
Children with a mucopolysaccharidosis or mucolipidosis suffer progressive disability of the hands, particularly in relation to dysfunction of the median nerve. This is an increasing problem because bone-marrow transplantation has dramatically improved survival without apparently changing the musculoskeletal manifestations. We have reviewed 48 children
A Vellodi
exaly   +3 more sources