Results 31 to 40 of about 389 (140)

Characterization of a Mucopolysaccharidosis Type I and GalNAc Transferase deficiency double knockout mouse [PDF]

open access: yes, 2018
The mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) which are characterized by the aberrant primary storage of glycosaminoglycans (GAGs) in lysosomes of multiple organ and tissue systems.
Gera, Karan
core   +2 more sources

Characterization of a murine model of mucopolysaccharidosis type IIID: A knockout model [PDF]

open access: yes, 2016
The Mucopolysaccharidoses (MPS) are a class of lysosomal storage disorders, characterized by the primary lysosomal storage of either single or multiple species of glycosaminoglycan (GAG) which leads to cell, tissue, and organ dysfunction.
Jamil, Maryam
core   +3 more sources

小児における尿中酸性ムコ多糖類の排泄パターンに関する研究 第II編 遺伝性酸性ムコ多糖代謝異常症*5例の尿中酸性ムコ多糖類の排泄パターン [PDF]

open access: yes, 1972
Since Brante suggested that Hurler syndrome was mucopolysaccharidosis, urinary acid mucopolysaccharides (AMPS) have been of interest to investigators.
南 良二
core   +1 more source

新鮮血漿静注による遺伝性ムコ多糖代謝異常症の尿中酸性ムコ多糖の変化について 第II編 尿中酸性ムコ多糖の組成変化 [PDF]

open access: yes, 1974
In our previous paper, the decrease of acid mucopolysaccharides and increase of non-cetylpyridinium chloride-precipitates in five patients with mucopolysaccharidosis after normal fresh plasma infusions were reported.
山口 衛
core   +1 more source

Studies on the Urinary Cetylpyridinium Chloride-Precipitates and Non-Cetylpyridinium Chloride-Precipitates in Normal Children and the Patients with Mucopolys-accharidoses, Mucolipidoses and Lipidoses. ―Hyperglyeopeptiduria in Mucolipidoses― [PDF]

open access: yes, 1974
Urinary cetylPyridinium chloride(CPC)-precipitates and non-CPC-precipitates in normal male children and seven patients with a new type of mucolipidosis, GM1-gangliosidosis type 1, I-cell disease, MPS I (Hurler type), MPS IV (Morquio type), Gauche's ...
千葉, 学道
core  

Wound healing effect of acanthaster planci sulfated glycosaminoglycans extracted from diabetic induced rats [PDF]

open access: yes, 2018
The Crown-of-Thorns starfish is an echidonermata that inhabits tropical and subtropical marine ecosystem within the Indo-Pacific. The starfish: A. Planci causes endemic devegetation of coral reef ecosystem.
Zainudin, Nur Hanim
core  

X-rays, body measurements, and uronic acid excretion of calves heterozygous and homozygous normal for Snorter dwarfism [PDF]

open access: yes, 1962
Several types of dwarfism have been recognized In beef cattle but none has, to date proposed an economic problem to the beef cattle Industry with the exception of the Snorter type.
Leeman, John Thomas
core   +1 more source

Sviluppo di approcci farmacologici innovativi per la terapia della malattia di Pompe [PDF]

open access: yes, 2021
La malattia di Pompe (PD) è una grave miopatia ereditaria causata da una mutazione nel gene che codifica per l'α-glucosidasi acida GAA, enzima deputato alla scomposizione del glicogeno lisosomiale.
Minopoli, Nadia
core  

Mucopolissacaridose IIIB – relato de três casos e estimativa da incidência no município de Teresópolis - RJ [PDF]

open access: yes, 2023
As mucopolissacaridoses (MPSs), são doenças metabólicas hereditárias raras, causadas pela deficiência de uma enzima lisossomal, necessária para degradar os glicosaminoglicanos (GAGs).
Batista, Fellipe Carlos Correa   +3 more
core   +1 more source

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