Results 91 to 100 of about 8,642 (245)

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

Case Reports in Pediatrics
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.
Cunha A, Matias I, França M, Lima J.
europepmc   +2 more sources

Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia [PDF]

, 2006
s Karyotypic evolution is a well-known phenomenon in patients with malignant hernatological disorders during disease progression. We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992.
Bennett JM, Bettina Wunderlich, Brigitte Poleck-Dehlin, Chen Z, Christoph Schmid, Cutler CS, De Witte T, Depil S, Georg Ledderose, Gisselsson D, Gullingsrud EO, Hans Jochen Kolb, Hebart H, Helga Schmetzer, Hoffmann WK, Hoffmeister PA, Holler E, Johann Mittermüller, Johansson B, Jotterand M, Kern W, Kolb HJ, Kolb HJ, Massenkeil G, Mattano, Mhawesch P, Mittermuller J, Moss PA, Mufti GJ, Rothe G, Sanders JE, Schmetzer H, Schmetzer H, Schmetzer HM, Schmid C, Seabright M, Seber A, Slovak ML, Sole F, Sole F, Thomas Duell, Tichelli A, Tichelli A, van Esser JW, Xu J, Yan J, Yoshida A   +46 more
core   +1 more source

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome [PDF]

, 2016
OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
AlSayed, MD, Berger, KI, Burton, BK, Decker, C, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Stewart, F   +14 more
core   +2 more sources

Structure and functions of Glycosaminoglycans: a short review (with some personal scientific contributions)

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2020
This present article wishes to underline the strong contribution to both structure and functions of living bodies of a group of acidic polysaccharides, the Glycosaminoglycans (GAGs), usually covalently linked to proteins to give Proteoglycans (PGs): GAGs
Alberto Calatroni
doaj   +1 more source

Determinación de hexosamines en orina por HPLC para el diagnóstico de mucopolisacariosis tipo III [PDF]

, 2014
Treballs Finals de Grau de Química, Facultat de Química, Universitat de Barcelona, Any: 2014, Tutors: Dra. Elisabet Fuguet Jordà i Dr. Rafael Artuch IriberriIn the present work a reported analytical method was optimized in order to improve the ...
Zamora Campos, Nelson
core  

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Among genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1‐associated disease. These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises
Bianca Peters, Tal Dattner, Lea D. Schlieben, Tian Sun, Christian Staufner, Dominic Lenz   +5 more
wiley   +1 more source

Eruptive syringoma in a case of mucopolysaccharidosis type IIIB-Sanfilippo B

Indian Journal of Paediatric Dermatology
Eruptive syringoma is a rare clinical variant of syringomas and is commonly described in the setting of Down's syndrome. Hereby, we report the case of a 22-year-old female presenting with multiple, small, skin-yellow-hyperpigmented, round-ovoid papules ...
Arthi Rajendran, Divya Raviprakash, Anuradha Priyadarshini, S Adikrishnan   +3 more
doaj   +1 more source

Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]

, 2014
Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes, Foster, Helen, Hardy, Elizabeth, Hensman, Pauline, Jones, Simon, Rapley, Timothy, Sen, Ethan, Wraith, Edmond   +7 more
core   +2 more sources

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

Unifying biology of neurodegeneration in lysosomal storage diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim, Simon N. Waddington, Tristan R. McKay   +2 more
wiley   +1 more source