Results 41 to 50 of about 21,613 (172)

Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS

Diseases, 2019
Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degraded
Chloe L. Christensen, Rhea E. Ashmead, Francis Y. M. Choy   +2 more
doaj   +1 more source

Hepatomegaly syndrome in mucopolysaccharidosis and type in children of ukraine: features of clinical characteristics

Актуальні проблеми сучасної медицини, 2021
Summary. The article is devoted to a topical issue in pediatrics - hepatomegaly syndrome in a rare metabolic pathology - mucopolysaccharidosis type I. Goal.
Nataliia Samonenko, Olena Okhotnikova, Nataliia Gorovenko   +2 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Audiologic evaluations of children with mucopolysaccharidosis

, 2016
INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG).
Ilyas Okur (12813817), Hakan Tutar (4895344), Bülent Gündüz (10419191), Senay Altinyay (10419188), Ozan Gökdoğan (10419267), Yusuf Kemal Kemaloğlu (12813820), Çağil Gökdoğan (12813814), Leyla Tümer (11583331)   +7 more
core   +1 more source

Oral manifestations in children with mucopolysaccharidosis [PDF]

, 2017
BACKGROUND: Patients with mucopolysaccharidosis have several changes of the stomatognathic complex, representing a challenge for dentists. OBJECTIVE: The study aimed to evaluate and characterize oral health in patients with mucopolysaccharidosis in a ...
Sampaio-Maia,Benedita, Areias,Cristina, Ponciano,Sara, Biancardini, Jéssica Saraiva   +3 more
core   +1 more source

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Diagnostics, 2019
Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs.
Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, Ru-Yi Tu, Ya-Hui Chang, Chia-Ying Chang, Pao Chin Chiu, Tung-Ming Chang, Wen-Hui Tsai, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin   +11 more
doaj   +1 more source

Damages of Cardiovascular System at Mucopolysaccharidosis Type I: Clinical Cases

Вопросы современной педиатрии, 2020
Background. Cardiac involvement in patients with mucopolysaccharidosis (MPS) type I, or Hurler syndrome, has various phenotypes.Clinical Case Description.
Elena S. Vasichkina, Tatyana L. Vershinina, Tatyana S. Kovalchuk, Ekaterina N. Blinova, Elizaveta V. Malkina, Tatyana M. Pervunina   +5 more
doaj   +1 more source

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Characterization of Lysosomal Hydrolases and Transporters and Their Age‐Dependent Variability: Relevance to Drug Metabolism and Transport of Small Molecule and Biologic Drugs

Clinical Pharmacology &Therapeutics, Volume 120, Issue 5, Page 1338-1347, November 2026.
Lysosomes play a key role in the accumulation, catabolism, and transport of endogenous and exogenous metabolites and proteins and are involved in drug metabolism and prodrug activation. However, the protein abundance and interindividual variability of lysosomal drug‐metabolizing enzymes and transporters (DMETs) remain underexplored.
Darshak Gadara, Dilip Kumar Singh, Sandhya Subash, Guihua Yue, Deepak Ahire, Chris Bohl, Maciej Czerwinski, Stephanie Helmstetter, Scott Heyward, Robert S. Jones, Cyrus Khojasteh, Ryota Kikuchi, Priyanka Kulkarni, Bin Ma, Bernard Murray, Chris Seib, Bill Smith, David M. Stresser, Mitchell E. Taub, Ting Wang, Bhagwat Prasad   +20 more
wiley   +1 more source

Alder–Reilly Anomaly Leading to Incidental Diagnosis of MPS VII in an Asymptomatic Adult

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of β‐glucuronidase due to pathogenic variants in the GUSB gene. Impaired degradation of glycosaminoglycans (GAGs) results in multiorgan dysfunction with highly variable clinical presentation, ranging from severe ...
Margaretha G. M. Roemer, Monique Chevallier, Marie van Dijk, André B. P. van Kuilenburg, Kasper W. ter Horst, Janneke C. Zant   +5 more
wiley   +1 more source