Results 31 to 40 of about 15,739 (180)

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

American Journal of Medical Genetics Part A, EarlyView.
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

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

Beyond the label: Rethinking off‐label drug use in paediatrics. Towards a scientifically grounded and safer future for paediatric pharmacotherapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden, Miriam G. Mooij, Matthijs de Hoog, Saskia N. de Wildt   +3 more
wiley   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Enzyme replacement therapy (ERT) for mucopolysaccharidosis II (MPS II) requires long‐term, weekly intravenous infusions often lasting over 3 h each time, which can burden paediatric patients and caregivers and negatively affect their quality of life and treatment compliance.
Kimitoshi Nakamura, Norio Sakai, Hideaki Hirai, Naoko Takasao, Ryo Ibaraki, Tatsuyoshi Yamamoto, Yuji Sato   +6 more
wiley   +1 more source

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

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, EarlyView.
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

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

Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review

Radiology Case Reports, 2021
Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue.
Tomoaki Sasaki, MD, PhD, Miki Ogata, MD, Aya Kajihama, MD, Kouichi Nakau, MD, Atsutaka Okizaki, MD, PhD   +4 more
doaj   +1 more source