Results 41 to 50 of about 796 (126)

[Mucolipidoses type II. Case report].

Revista medica de Chile, 2003
We report a female newborn with type II mucolipidoses. This condition is characterized clinically by Hurler like features, progressive psychomotor retardation and death during the first or second year of life. Most cases present during the first year of life, with poor weight gain and coarse facies features.
Mariana, Aracena, Paulina, Mabe, María, Mena, Silvia, Andreani, Claudio, Daza   +4 more
openaire   +1 more source

Walsh & Hoyt: Lysosomal Storage Diseases

, 2005
There are six readily distinguishable forms of mucopolysaccharidoses. The disorders each result from deficiency of lysosomal enzymes involved in the degradation of dermatan sulfate, heparan sulfate, or keratan sulfate.
Michael X. Repka, MD
core  

Detection of Glycosaminoglycans in Biological Specimens. [PDF]

Methods Mol Biol, 2023
Khan SA, Nidhi FNU, Amendum PC, Tomatsu S.   +3 more
europepmc   +1 more source

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant. [PDF]

Mol Genet Metab Rep, 2021
Wongkittichote P, Upchurch GM, Dehner LP, Wood T, Granadillo JL.   +4 more
europepmc   +1 more source

Mucolipidoses (ML)

, 2004

core   +1 more source

Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. [PDF]

Int J Mol Sci
Lee CL, Chuang CK, Chang YH, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

Gene therapy for ultrarare diseases: a geneticist's perspective. [PDF]

J Biomed Sci
Hwu WL.
europepmc   +1 more source

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases. [PDF]

J Clin Med
Jerves Serrano T, Gold J, Cooper JA, Church HJ, Tylee KL, Wu HY, Kim SY, Stepien KM.   +7 more
europepmc   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +1 more source

Carpal Tunnel Syndrome: A Comprehensive Review. [PDF]

Cureus
Milczarek C, Czyzewski B, Kozlowski K, Zywiec W, Dorota A, Dorota M, Koval I, Czyzewska J, Kawa O.   +8 more
europepmc   +1 more source