Results 71 to 80 of about 21,161 (167)

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
core   +1 more source

Mucopolysaccharidosis in children as seen through the eyes of an ophthalmologist

Mucopolysaccharidosis is a rare, genetically determined metabolic disease. It arises from abnormalities related to the absence or deficiency of lysosomal enzymes needed to break down glycosaminoglycans.
Katarzyna Piasecka, Anna Niwald, Mirosława Grałek   +2 more
core   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, Volume 46, Issue 10, Page 1557-1564, September 2026.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +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, Heron, Benedicte, Nicolas Leboulanger, Brigitte Fauroux, Raphaël Vialle   +9 more
core   +1 more source

Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases [PDF]

, 2020
Mucopolysaccharidosis type I mild forms include Scheie syndrome and Hurler-Scheie syndrome that are characterized by slow progression, intact intelligence, and primarily effect on visual organ, musculoskeletal and cardiovascular systems.
Natalia V. Zhurkova, Marina A. Babaikina, Nato D. Vashakmadze, Lyudmila M. Mikhaylova, Leyla S. Namazova-Baranova, Ekaterina Yu. Zakharova, Elena J. Voskobaeva   +6 more
core   +1 more source

Bone marrow transplantation in patients with storage diseases: a developing country experience

Arquivos de Neuro-Psiquiatria, 2006
Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center.
Lange Marcos C., Teive Hélio A.G., Troiano André R., Bitencourt Marco, Funke Vaneuza A.M., Setúbal Daniela C., Zanis Neto José, Medeiros Carlos R., Werneck Lineu C., Pasquini Ricardo, Bonfim Carmen M.S.   +10 more
doaj  

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Clinical Case Reports, 2018
Key Clinical Message Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans ...
Dineshani Hettiarachchi, Nilaksha Nethikumara, Bamunu Arachchi Pathiranage Sajeewani Pathirana, Kalum Weththasigha, Weerabaddana Dilshani Niluka Dissanayake, Vajira H. W. Dissanayake   +5 more
doaj   +1 more source

Anesthesiological risks in mucopolysaccharidoses

Italian Journal of Pediatrics, 2018
Background Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway.
Alessandra Moretto, Maria Grazia Bosatra, Laura Marchesini, Simonetta Tesoro   +3 more
doaj   +1 more source

Oral manifestations in children with mucopolysaccharidosis

, 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 ...
Benedita Sampaio-Maia, Cristina Areias, Sampaio-Maia,Benedita, Areias,Cristina, Ponciano,Sara, Sara Ponciano   +5 more
core   +1 more source

Mucopolysaccharidosis

, 2023
Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs.
Noopur Gupta, Shifa Ahmed, Kusumitha Bhakthaganesh, Murugesan Vanathi, Radhika Tandon, Manumuraleekrishna   +5 more
core   +1 more source