Results 61 to 70 of about 3,483 (174)

GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS

Slovenska pediatrija, 2022
Mucopolysaccharidoses are a group of rare lysosomal storage diseases. The clinical signs develop gradually, the impairment is progressive and multiple organs are affected. With the currently known treatment options, the patient cannot be cured.
Benjamin Lah, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, Urh Grošelj   +7 more
doaj   +1 more source

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque

International Journal of Dermatology, Volume 65, Issue 1, Page 15-17, January 2026.
ABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Marian Fernández Martínez, Frida Paola Rivera Lira, Rodrigo Roldán‐Marín, Sonia Toussaint‐Caire   +3 more
wiley   +1 more source

Musculoskeletal anomalies in children with Mucopolysaccaridoses

Гений oртопедии, 2021
Introduction The accumulation of glycosaminoglycan (GAGs) in the tissues in Mucopolysaccharidoses (MPS) can lead to skeletal anomalies (DYSOSTOSIS MULTIPLEX) and to soft tissue impairments (neural or medullar compression, joint stiffness, tenosynovitis).
Florence Müller, Khaled Alomar, Pierre Journeau   +2 more
doaj   +1 more source

Amoxicillin‐Induced Drug‐Induced Liver Injury Superimposed on Acute Hepatitis C Infection in a Patient With Hurler Syndrome: A Diagnostic Challenge Assessed by the Updated RUCAM

Case Reports in Hepatology, Volume 2026, Issue 1, 2026.
Background Drug‐induced liver injury (DILI) refers to hepatotoxicity caused by conventional chemical drugs or xenobiotics, whereas herb‐induced liver injury (HILI) is attributed to herbal and dietary supplements. Both these conditions pose diagnostic challenges, particularly when concurrent etiologies such as acute viral hepatitis are present.
Archit Garg, Prosper Seshie, Abhishek Chouthai, Sahil Raval, Aadhithyaraman Santharaman, Adil Manzoor, Arkady Broder, Ned Snyder   +7 more
wiley   +1 more source

From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly–Arthropathy–Coxa Vara–Pericarditis Syndrome—A Case‐Based Review

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by PRG4 mutations that impair lubricin production. Resulting noninflammatory hyperplasia produces congenital or early‐onset camptodactyly and noninflammatory arthropathy, affecting large joints.
Ana Luiza Garcia Cunha, Isabela Tavares Barretos Matias, Matheus Santos França, Joziele de Souza Lima, Andrea Scaramuzza   +4 more
wiley   +1 more source

A Novel Gain‐of‐Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces

Human Mutation, Volume 2026, Issue 1, 2026.
Two clinical phenotypes are associated with GLUL mutations, from different inheritance mode. Recessive forms are associated with congenital glutamine deficiency, manifesting with severe brain malformation, multiorgan failure, and early death. A dominant form has recently been described, which involves dysregulated glutamine synthetase stability and ...
Tenghui Wu, Fang He, Xiaoyuan Ni, Fei Yin, Jing Peng, Feng Gu   +5 more
wiley   +1 more source

Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies

Frontiers in Public Health
IntroductionMucopolysaccharidoses (MPS) constitute a group of progressive and multisystemic inherited metabolic diseases that profoundly affect both the mental health of patients and the wellbeing of their families. This study aims to evaluate the impact
Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Tiago dos Santos Bara, Tiago dos Santos Bara, Vanessa Furlin, Vanessa Furlin, Mara Lúcia Schmitz Ferreira Santos, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Genetics and Molecular Biology, 2019
Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs).
Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal   +8 more
doaj   +1 more source

Glycosaminoglycans influence regional mechanics in young but not old Achilles tendons

The Journal of Physiology, Volume 603, Issue 23, Page 7589-7601, December 1, 2025.
Abstract figure legend Glycosaminoglycans (GAGs) are long, polysaccharide chains that are located between collagen fibrils in tendon and decrease with age in many musculoskeletal tissues. Yet, it is unknown whether declines in GAGs with age are responsible for age‐related changes to Achilles tendon mechanics.
Jonathon L. Blank, Jeremy D. Eekhoff, Louis J. Soslowsky   +2 more
wiley   +1 more source

Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review

Therapeutics and Clinical Risk Management, 2022
Cecilia Lazea,1,2 Camelia Al-Khzouz,1,3 Crina Sufana,2 Diana Miclea,3,4 Carmen Asavoaie,5 Ioana Filimon,5 Otilia Fufezan5 1Department Mother and Child, University of Medicine and Pharmacy “Iuliu Hatieganu”, Cluj-Napoca, Romania; 2Department of Pediatrics
Lazea C, Al-Khzouz C, Sufana C, Miclea D, Asavoaie C, Filimon I, Fufezan O   +6 more
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