Results 111 to 120 of about 11,217 (226)

Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT This report presents a 13‐year‐old male with abnormal body movements, generalized body weakness, and developmental regression who was further evaluated to conclude type 2 Sialidosis as the diagnosis. Genetic testing is key in diagnosing such rare conditions, and management is difficult, particularly in resource‐limited settings.
Kundan Kumar Yadav, Milan Pokhrel, Geeta Bashyal, Shankar Pokharel, Santoshi Pokharel Kunwar   +4 more
wiley   +1 more source

Marfan syndrome associated to pectus carinatum: a case report from cartagena de indias. Colombia

Revista Ciencias Biomédicas, 2011
Marfan syndrome (MFS) is the most common connective tissue inherited disorder,transmitted as an autosomic dominant character. Mutation is located in FBN1 allele,that encodes to Fibrilin-1.
Malambo-García Dacia I, Mora-García Gustavo J., Pomares-Estrada José C, Gómez-García Cristian (q.e.p.d.), Gómez-Camargo Doris E.   +4 more
doaj  

Retrospective Study of Clinical and Genetic Profiles of Alpha‐Mannosidosis Patients From the UAE

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Alpha‐mannosidosis (AM; OMIM 248500) is a rare autosomal recessive lysosomal storage disorder caused by mutations in MAN2B1, which codes for the lysosomal alpha‐mannosidase enzyme (LAMAN; EC:3.2.1.24). Clinical characteristics include developmental delay, hearing impairment, and recurrent infections.
Ali K. Saad, Tasneem Al‐Hammadi, Shaikha Al‐Ameri, Aisha Al‐Shamsi, Noura Al‐Dhaheri, Amal Al Tenaiji, Fatma Al Jasmi   +6 more
wiley   +1 more source

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. [PDF]

, 2014
ObjectiveTo assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (mucopolysaccharidosis IVA).MethodsPatients with Morquio A aged ≥5 years (N = 176) were randomised (1:1:
A McDonald, AE Lammers, AM Li, AM Montaño, American Thoracic Society, American Thoracic Society, Barbara Burton, C Hendriksz, Christian J. Hendriksz, CJ Hendriksz, DB Rubin, Debra Lounsbury, Derralynn Hughes, E Yasuda, Eugen Mengel, J Muenzer, J Muenzer, J Nelson, J Nelson, JE Wraith, LA Clarke, LA Martell, M Dvorak-Ewell, Maurizio Scarpa, MF Algahim, P Harmatz, P Harmatz, P Harmatz, P Harmatz, Paul Harmatz, Peter Slasor, R Aslam, RJ Barst, RJA Butland, Roberto Giugliani, S Tomatsu, Shuan-Pei Lin, Simon A. Jones, Thomas R. Fleming, TR Fleming, Vassili Valayannopoulos, VC Dũng, Wolfgang Dummer, Y Hochberg   +43 more
core   +2 more sources

Correction of the Manubriosternal Angle: The Missing Link in the Diagnosis and Management of Anterior Chest Wall “Pectus” Deformities

Plastic and Reconstructive Surgery, Global Open
Summary:. A normal manubriosternal angle (MSA) varies between 157 and 161 degrees, and it is either increased (in pectus carinatum) or decreased (in pectus excavatum).
Reida El Oakley, FRCS, MD
doaj   +1 more source

Treatment of Pectus Carinatum via Telemedicine [PDF]

, 2020
Pectus carinatum is a chest wall condition characterized by abnormal protrusion of the sternum and costal cartilages outward. Surgery had been the gold standard for treatment for a long time, but a non-operative approach to treatment with the use of a ...
Brausch, Kristin
core   +1 more source

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Background Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism.
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed   +5 more
wiley   +1 more source

Innocent heart murmurs [PDF]

, 2008
Innocent heart murmur is a frequent auscultatory finding in children. The diagnosis is essentially clinical, without need for further investigation. However, excluding heart disease can be a difficult task.
Canha, J, Castela, E, Dinis, A, Martins, P, Ramalheira, G   +4 more
core   +1 more source

Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant

ESC Heart Failure, Volume 12, Issue 3, Page 2371-2376, June 2025.
Ying Wang, Guizhou Ma, Dianyu Cai, Jierong Yao, Bingying Huang, Chaojian Wu, Xiaoling Liu, Zhixiong Cai   +7 more
wiley   +1 more source

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]

, 2019
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré, De Backer, Julie, De Groote, Katya, De Wilde, Hans, De Wolf, Daniël, Dhondt, Karlien, Hertegonne, Katrien, Jordaens, Luc, Muiño Mosquera, Laura   +8 more
core   +1 more source