Results 111 to 120 of about 796 (126)

Carpal tunnel syndrome and finger deformities in children with mucopolysaccharidoses and mucolipidoses: a retrospective review of 52 patients

Journal of Hand Surgery: European Volume, 2022
Cyril Gitiaux, Mathilde Gaume, Clement Thirache   +2 more
exaly  

Biochemical and ultrastructural diagnostic problems in mucolipidoses.

Acta paediatrica Hungarica, 1992
Biochemical and ultrastructural investigations were made in 2 children suffering from mucolipidosis type III. Among the lysosomal hydrolases the activity of beta-galactosidase and alfa-fucosidase diminished in the homogenate of the peripheral leukocytes in case I. The activity of serum and leukocyte arylsulfatase was normal.
László, Aranka, Lászik, Z., Klujber, L., Havass, Z.   +3 more
openaire   +1 more source

The mucolipidoses: with special reference to I-cell disease

1975
The mucolipidoses bridge the gap between the mucopolysaccharidoses and the sphingolipidoses. Diagnosis of the mucopolysaccharidoses depends on the appearance of the patient and the finding of excess urinary MPS, but more recently identification of specific enzyme deficiencies has been possible.
openaire   +1 more source

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

Molecular Genetics and Metabolism, 2010
Shunji Tomatsu, Hirotaka Oikawa, Adriana M Montano   +2 more
exaly  

The mucolipidoses.

Perspectives in pediatric pathology, 1993
E F, Gilbert-Barness, L A, Barness
openaire   +1 more source

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Journal of Medical Genetics, 2010
J G Leroy, R E Stevenson, R J Simensen
exaly  

Sialidoses (Mucolipidoses), Clinical Pictures

Advances in Experimental Medicine and Biology, 1980
U N Wiesmann, N Herschkowitz, Norbert Herschkowitz   +2 more
exaly  

Characterization of Urinary Glycoconjugates in Mucolipidoses I-IV

1979
Marguerite Lemonnier
exaly  

[Review of mucolipidoses].

Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1990
openaire   +1 more source

Biochemical studies in mucolipidoses II and III.

Birth defects original article series, 1976
L J, Shapiro, S, Hickman, C W, Hall, E F, Neufeld   +3 more
openaire   +1 more source