Results 51 to 60 of about 60,786 (163)

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

JIMD Reports, 2021
Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine‐generating enzyme due to SUMF1 defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimaging findings ...
Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer   +9 more
doaj   +1 more source

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

Case Reports in Genetics, 2022
We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance ...
Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad   +5 more
doaj   +1 more source

Mucopolysaccharidosis VI

Orphanet Journal of Rare Diseases, 2010
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,
Harmatz Paul, Nicely Helen, Valayannopoulos Vassili, Turbeville Sean   +3 more
doaj   +1 more source

MUCOSULFATIDOSIS: MULTIPLE SULFATASE DEFICIENCY [PDF]

Pediatric Research, 1974
In two cases of metchromatic leucodystrophy associated with mucopolysaccharidos is the biochemical defect has been investigated. In the organs there was an accumulation of sulfatid, mucopolysaccharide (MPS) and cholesterolsulfate. This accumulation of different sulfate containing compounds was correlated with a deficiency of the activity, of several ...
U Wiesmann, Y Eto, J Carson, N Herschkowitz   +3 more
openaire   +1 more source

A rare case of severe Hunter's Syndrome

CHRISMED Journal of Health and Research, 2018
Hunter's Syndrome or mucopolysaccharidosis Type II is a rare metabolic disorder caused by the deficiency of lysosomal enzyme iduronate-2-sulfatase. It results in progressive accumulation of deramatan and heparan sulfates in tissues leading to a wide ...
Sharon Vincent, Joe Mathew Cherian, Abi M Thomas, Rajesh Kumar   +3 more
doaj   +1 more source

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency

bioRxiv
Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor formylglycine-generating enzyme. Patients with MSD exhibit functional deficiencies in all
Vi Pham, L. Tricoli, X. Hong, Parith Wongkittichote, Carlo Castruccio Castracani, A. Guerra, L. Schlotawa, L. Adang, Amanda Kuhs, Margaret M. Cassidy, Owen Kane, E-Jine Tsai, Maximiliano Presa, Cathleen M. Lutz, Stefano Rivella, R. Ahrens-Nicklas   +15 more
semanticscholar   +1 more source

Icariin Enhances the Enzymatic Activity of N‐acetylgalactosaminidase to Augment Akkermansia Abundance in Gut Microbiota for Improved PD‐1 Blockade Efficacy in Tumor Suppression

Advanced Science, EarlyView.
Icariin promoted the growth of Akk by enhancing the activity of N‐acetylgalactosaminidase (Amuc_0920), which enhanced mucin utilization and provided a favorable nutrient environment for bacterial growth. This icariin‐mediated enrichment of Akk further reshaped the tumor microenvironment and promoted CD8+ T cell infiltration, ultimately synergizing with
Shuangying Qiao, Liu Yang, Haibang Hao, Qiuxia Ding, Feng Ding, Zheng Chen, Jinfang Zhang, Yun He, Meng Li, Jun Xu, Chao Wang, Aiping Lu, Fangfei Li   +12 more
wiley   +1 more source

Chitotriosidase as a biomarker for gangliosidoses

Molecular Genetics and Metabolism Reports, 2021
Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes   +2 more
doaj   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. [PDF]

PLoS ONE, 2015
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-
Claudia Cozma, Sabrina Eichler, Gyula Wittmann, Alba Flores Bonet, Guido Johannes Kramp, Anne-Katrin Giese, Arndt Rolfs   +6 more
doaj   +1 more source