Results 71 to 80 of about 6,677,368 (199)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

, 2010
To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the ...
MALM G, Barbara K. Burton, Gunilla Malm, HARMATZ P, Nancy J. Mendelsohn, Christina Lampe, SCARPA, MAURIZIO, Olaf Bodamer, BODAMER O, BURTON BK, Rossella Parini, MENDELSOHN NJ, GIUGLIANI R, Simon A. Jones, STEINER RD, Roberto Giugliani, LAMPE C, JONES SA, Paul Harmatz, PARINI R, Robert D. Steiner, Jones, SA, Burton, BK, Giugliani, R, Malm, G, Steiner, RD, Parini, R, Mendelsohn, NJ, Harmatz, P, Lampe, C, FELICIANI, Claudio, Malm, G,, Bodamer, O   +32 more
core   +1 more source

Osteoporosis in mucopolysaccharidosis type II (Hunter's syndrome)

, 2002
The paper deals with risk of osteoporosis in children with mucopolysaccharidosis type II (or Hunter's syndrome)
Rigante, D
core  

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

Mucopolysaccharidosis Type II in the Practice of the Physician

Aktualʹnaâ Infektologiâ, 2016
The article is devoted to one of the hereditary disea­ses — mucopolysaccharidosis type II, which is caused by deficiency of lysosomal enzymes, which leads to the catabolism disorder of the basic substance of the connective tissue mucopolysaccharide ...
I.Y. Vatanskaya, I.P. Strekozova, I.T. Kotelevskaya   +2 more
doaj   +1 more source

Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis: Acoustic reflection in mucopolysaccharidosis

, 2011
International audienceBackground Upper airway obstruction is common in children with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyse the calibre of the upper airways.
Louis, Bruno, Vialle, Raphael, Bénédicte Heron, Bruno Louis, Leboulanger, Nicolas, Fauroux, Brigitte, Nicolas Leboulanger, Brigitte Fauroux, Raphaël Vialle, Héron, Bénédicte   +9 more
core   +1 more source

A case of hunter syndrome and Alder-Reilly anomaly

Journal of Applied Hematology, 2017
A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided hydrocele. On investigation, the peripheral smear revealed Alder–Reilly anomaly in the neutrophils suggesting mucopolysaccharidosis (MPS).
Nour AlMozain, Nasir A Bakshi
doaj   +1 more source

Clinical presentation of mucopolysaccharidosis type II (Hunter′s syndrome)

Annals of Medical and Health Sciences Research, 2012
We present a rare case of mucopolysaccharidosis (MPS) with a typical presentation of mental retardation and absence of corneal clouding. The purpose of presenting this case report is to highlight the distinctive manifestation of MPS (Hunter's disease) and to provide a concise report of Hunter's disease for medical practitioners with the hope that such ...
Chinawa, JM, Adimora, GN, Obu, HA, Tagbo, B, Ujunwa, F, Onubogu, I   +5 more
openaire   +4 more sources

Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with idursulfase

, 2012
Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with ...
VOLPI, Nicola
core  

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire

Journal of Patient-Reported Outcomes, 2019
Background Capturing the impact of caring for patients with debilitating rare disease is important for understanding disease burden. We aimed to develop and validate an instrument to measure the impact on caregivers of caring for children with three ...
Magdalena Harrington, Asha Hareendran, Anne Skalicky, Hilary Wilson, Marci Clark, Jaromir Mikl   +5 more
doaj   +1 more source