Results 71 to 80 of about 15,745 (181)
Delay in Diagnosis of Classical Homocystinuria
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake +5 more
wiley +1 more source
Public Health Genomics, 2004 <i>Objectives:</i> Marfan syndrome (MFS) is a relatively frequent systemic connective tissue disorder with an important physical morbidity and mortality. The influences of MFS on physical problems, perception of severity, and impact on the quality of life and psychosocial well-being have been studied only limitedly.
Sylvia, De Bie +4 more
openaire +2 more sources
Zdravniški Vestnik, 2005 Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
doaj
MARFAN SYNDROME PRESENTING WITH BILATERAL RETINAL DETACHMENT
National Journal of Medical Research, 2014 Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal
Subrata Chakrabarti, Koushik Pan
doaj
Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia
Lung India, 2009 We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor.
Kate A, Gothi D, Joshi J
doaj
Revista Ciências em Saúde, 2014 Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi ...
Eduardo Tadeu Ramos Almeida +2 more
doaj +1 more source
Marfan syndrome diagnosis and management
SA Heart Journal, 2017 Marfan syndrome is the most common inherited multisystem disorder of connective tissue. This autosomal dominant condition has an incidence of 2-3 per 10,000 individuals. Although genetic diagnostic techniques are available, the diagnosis is primarily
Naser M. Ammash, Heidi M. Connolly
doaj +1 more source
Determinants of fatigue in patients with Marfan syndrome: a study using PROMS
Orphanet Journal of Rare DiseasesBackground Fatigue is often reported by individuals with Marfan syndrome (MFS). However, the determinants of fatigue and its impact on the daily lives of patients with MFS remain poorly understood.
Ines Cavalier +7 more
doaj +1 more source
A patient with Marfan syndrome in a general practitioner’s office
Pediatria i Medycyna Rodzinna, 2015 Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins). It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1.
Magdalena Czerżyńska +3 more
doaj +1 more source