Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]
, 2008 Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo +8 more
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Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo
Allergy, Asthma & Clinical Immunology, 2022 Background IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema.
Leonardo Oliveira Mendonça +9 more
doaj +1 more source
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]
, 2010 Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O +15 more
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Is adermatoglyphia an additional feature of Kindler Syndrome? [PDF]
Anais Brasileiros de Dermatologia, 2015 A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired ...
Hiram Larangeira de Almeida Jr +4 more
doaj +2 more sources
Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations [PDF]
, 2012 Increasingly sophisticated measurement technologies have allowed the fields of metabolomics and genomics to identify, in parallel, risk factors of disease; predict drug metabolism; and study metabolic and genetic diversity in large human populations. Yet
Dumas, ME +3 more
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Prevención de enfermedades genética en Las Tunas, nonestre de 2015
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Fundamento: la inclusión de pacientes en los programas de prevención de enfermedades genéticas facilita la toma de conductas oportunas con la participación de la familia, contribuyendo a mantener indicadores adecuados de salud genética en la población ...
Orlando Peña Mancebo +4 more
doaj
Hailey-Hailey disease: clinical, diagnostic and therapeutic update [PDF]
Anais Brasileiros de DermatologiaHailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes.
Adriana Maria Porro +5 more
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The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]
, 1977 In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
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Consumers and Food Choice: Quality, Nutrition and Genes [PDF]
, 2010 The quantity and quality of food needed for reproduction differs from nutritional needs for health and longevity. The choice of food type and amount is driven by our genetic need for growth and reproduction, not for long term health.
Borut Poljsak, B. +3 more
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Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
The Journal of Clinical Investigation, 2023 Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
doaj +1 more source