Results 81 to 90 of about 1,760 (179)

Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain

Heliyon
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz   +10 more
doaj   +1 more source

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald, John Bassett, Nuria Puente‐Ruiz, Peter Clayton, Karolina M. Stepien   +4 more
wiley   +1 more source

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
Mary C. Theroux, Michael Beck, Renée Shediac, Theroux, Mary C, Lampe, Christian G, William G. Mackenzie, White, Klane K, Christina Lampe, Martin, Kenneth W, Christian J. Hendriksz, Beck, Michael, Harmatz, Paul R, Christian G. Lampe, Lampe, Christina, Mackenzie, William G, Hendriksz, Christian J, Paul R. Harmatz, Solanki, Guirish A, Klane K. White, Guirish A. Solanki, Shediac, Renée, Kenneth W. Martin   +21 more
core   +1 more source

Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI

, 2021
The aims of the study were to evaluate the prevalence of sleep-disordered breathing (SDB) by using polysomnography (PSG) in children with MPS IVA and MPS VI who underwent enzyme replacement therapy (ERT) and to analyze the effect on SDB of having upper ...
Serap Sivri, Birce Sunman, DOĞRU ERSÖZ, DENİZ, Nayir Buyuksahin, Halime, Kiper, Nural, Nural Kiper, Sunman, Birce, Guzelkas, Ismail, ADEMHAN TURAL, DİLBER, EMİRALİOĞLU ORDUKAYA, NAGEHAN, Nagehan Emiralioglu, Deniz Dogru, Kubra Kilic, Naciye Vardar Yagli, EMİRALİOĞLU, NAGEHAN, Beste Ozsezen, ÖZSEZEN, BESTE, ÇIKI, KISMET, Yalcin, Ebru, Sivri, Serap, Ismail Guzelkas, Halime Nayir Buyuksahin, Ebru Yalcin, Omer Faruk Ipek, Ozcelik, Ugur, Kilic, Kubra, Kismet Ciki, Vardar Yagli, Naciye, Dilber Ademhan Tural, Ugur Ozcelik, Ipek, Omer Faruk   +30 more
core   +1 more source

Functional independence of Taiwanese patients with mucopolysaccharidoses

Molecular Genetics & Genomic Medicine, 2019
Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT).
Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin   +16 more
doaj   +1 more source

Comparison of Liquid Chromatography–Tandem Mass Spectrometry and Sandwich ELISA for Determination of Keratan Sulfate in Plasma and Urine

Biomarker Insights, 2011
Background and Aim Mucopolysaccharidosis IVA (MPS IVA) leads to skeletal dysplasia through excessive storage of chondroitin-6-sulfate and keratan sulfate (KS).
Jonathan P. Hintze, Shunji Tomatsu, Tadashi Fujii, Adriana M. Montaño, Seiji Yamaguchi, Yasuyuki Suzuki, Masaru Fukushi, Takeshi Ishimaru, Tadao Orii   +8 more
doaj   +1 more source

GALNS mutations of patients diagnosed and selected as reference for the MPS IVA enzymatic assay development.

, 2015
aNot described in HGMD, present in CentoMD [20]bPatients carry two heterozygous mutationscPatient carries three heterozygous mutations/variantGALNS mutations of patients diagnosed and selected as reference for the MPS IVA enzymatic assay development.
Arndt Rolfs (140849), Sabrina Eichler (766351), Anne-Katrin Giese (440558), Gyula Wittmann (766352), Alba Flores Bonet (766353), Claudia Cozma (766350), Guido Johannes Kramp (766354)   +6 more
core   +1 more source

The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023

Diagnostics
Objectives: Mucopolysaccharidoses (MPSs) are a group of a rare inherited lysosomal storage diseases caused by a deficiency or complete lack of lysosomal enzymes participating in glycosaminoglycan (GAG) degradation, which leads to multisystemic impairment
Assel Tulebayeva, Gulnar Mukhambetova, Maira Sharipova, Anna Tylki-Szymanska   +3 more
doaj   +1 more source

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction

Molecular Medicine
Background Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder.
Igor Bychkov, Elza Shchukina, Ekaterina Zakharova   +2 more
doaj   +1 more source

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. [PDF]

Anesth Analg, 2023
Theroux MC, DiCindio S, Averill LW, Pizarro C, Oommen A, Bober MB, Ditro C, Campbell J, Duker AL, Jones T, Passi V, Barth P, Schmidt RJ, Little M, Mackenzie S, Tomatsu S, Mackenzie WG.   +16 more
europepmc   +1 more source