Results 111 to 120 of about 4,684 (195)

RT-PCR data analysis NAGLUand GALNS in MPS IIIB and IVA skin fibroblast

Total RNA was isolated from skin fibroblasts obtained from healthy (GM00613) and mucopolysaccharidosis IIIB (GM02931 and GM01426) and IVA (GM01259 and GM00958) donors.
Vargas-López, V (via Mendeley Data)
core   +1 more source

Additional file 3 of Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

, 2020
Additional file3: Table S3.
Shao-Yin Chu (8396412), Wuh-Liang Hwu (59461), Yin-Hsiu Chien (59458), Pao-Chin Chiu (8396409), Michael Gelb (2527174), Ni-Chung Lee (3428138), Pin-Wen Chen (7538462), Hui-Ying Yeh (8396406), An-Ru Lee (8396418), Chen-Hao Lee (8396415)   +9 more
core   +1 more source

DIAGNOSTICO TARDÍO DE MUCOPOLISACARIDOSIS TIPO IVA EN DOS HERMANOS EN EL SUR COLOMBIANO

Revista Ciencias de la Salud
Introducción: La mucopolisacaridosis tipo IV (MPS IV), es un trastorno hereditario autosómico recesivo, de almacenamiento lisosomal por mutaciones en el gen de la N‐acetilgalactosamina‐6‐sulfatasa (GALNS). Su incidencia es de 1 en cada 75.000 a 1 en 200.
Maria Camila Gutierrez Vargas
doaj   +1 more source

Dobivanje galne kiseline iz domaćih taninskih ekstrakata

Croatica Chemica Acta, 1956
U ovom radu proucavali smo. metode dobivanja galne kiseline iz domacih taninskih ekstrakata. Ponajprije su odredeni optimalni uvjeti za dobivanje galne kiseline hidrolizom u alkalnoj i kiseloj sredini. U tu svrhu upotrebili smo kod pokusa acidum tannicum kao standardnu galotaninsku sirovinu.
Krajčinović, M., Prohaska, B., Mekjavić, I.   +2 more
openaire   +2 more sources

Mucopolissacaridose IVA : análise molecular e caracterização de haplótipos intragênicos no gene Galns [PDF]

, 2015
Introdução: Mucopolissacaridose IVA é uma doença lisossômica, autossômica recessiva, causada pela deficiência da enzima N-acetilgalactosamina-6-sulfatase. É uma doença rara e a incidência varia de 1:76.000 a 1:640.000 recém-nascidos vivos.
Bochernitsan, Aline Nemetz
core  

Molecular study of IDUA, IDS, GALNS, GLB1 genes in Azerbaijan Republic

Advanced Studies in Biology
For the first time in Azerbaijan Republic, we carried out medical genetic consultation of affected children suspicious of lysosomal storage diseases, and particularly with mucopolysaccharidoses. Patients were from the cities of Baku, Gyandzhe and other areas of the Republic. Consultations were done by doctors: pediatrician and geneticist.
S. A. Alizada, Sh. T. Musayev, E. M. Rasulov   +2 more
openaire   +1 more source

Utjecaj galne kiseline na taloženje kalcijeva oksalata

, 2021
The search for an efficient drug or inhibitor in the formation process of kidney stones has been a promising research topic towards reducing the risks of the formation of disease. However, several challenges have been faced in investigating the most common constituents of kidney stones, calcium oxalate and its hydrate forms (COM, COD and COT).
openaire   +1 more source

Molecular Analysis of GALNS Gene in eight Iranian Patients with Mucopolysaccharidosis IVA [PDF]

Journal of Ardabil University of Medical Sciences, 2021
Seyed Hosseiali Saberi, Behnam Kamalidehghan, Shahla Farshidi, Seyed Masoud Houshmand, Roshanak Jazayeri   +4 more
openaire   +1 more source

Various Cells Retrovirally Transduced with N -Acetylgalactosoamine-6-Sulfate Sulfatase Correct Morquio Skin Fibroblasts In Vitro

, 2001
Gene therapy may provide a long-term approach to the treatment of mucopolysaccharidoses. As a first step toward the development of an effective gene therapy for mucopolysaccharidosis type IVA (Morquio syndrome), a recombinant retroviral vector, LGSN ...
Tortora, Paolo, Bordignon, Claudio, Traversari, Catia, Kondo, Naomi, Sukegawa, Kazuko, Fukuda, Seiji, Toietta, Gabriele, Severini, Giovanni Maria, Tomatsu, Shunji   +8 more
core   +1 more source

Kinetika adsorpcije galne kiseline na ß-glukanu

, 2020
Adsorption is a process in which molecules from a liquid or gas bind to the surface of a solid phase. To study the adsorption process, experiments are performed to obtain the data of amount of adsorbed (qe) and un-adsorbed compounds (ce) at the moment when the adsorption reaches equilibrium.
openaire   +2 more sources