Results 251 to 260 of about 38,591 (268)

Are inborn errors of immunity being investigated in the pediatric intensive care unit? [PDF]

J Pediatr (Rio J)
de Brito CCM, Bezerra PGM, Lyra PT, de Mello MJG.   +3 more
europepmc   +1 more source

Genética Médica y personalidades mundiales: personajes con enfermedades de causa genética o errores en la morfogénesis

Revista de Ciencias Médicas de Pinar del Río
Estela Morales Peralta, Miguel Alfonso Alvarez Fornaris   +1 more
doaj  

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions. [PDF]

Eur J Pediatr
Gunes D, Karaca M, Durmus A, Ak B, Aktay Ayaz N, Altınel ZU, Aslanger AD, Atalar F, Balci MC, Bilgin L, Darendeliler F, Demirkol D, Durmaz O, Gedikbasi A, Inan Balci E, Ince EZ, Karadag SG, Keskindemirci G, Nisli K, Ozcetin M, Somer A, Unuvar A, Uysalol M, Yildiz E, Yuruk Yildirim ZN, Demirkol M, Gokcay GF.   +26 more
europepmc   +1 more source

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

JAMA Netw Open
Carli D, Quarello P, Porta F, Cagnazzo C, Zucchetti G, Proto CF, Gianasso R, Biamino E, Carbonara C, Coscia A, Parlato C, Fenoglio B, Guarrera S, Spada M, Mussa A, Minucci S, Fagioli F.   +16 more
europepmc   +1 more source

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Inborn errors of immunity: an expanding universe of disease and genetic architecture

Nature Reviews Genetics, 2023
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system.
Yemsratch T. Akalu, Dusan Bogunovic
openaire   +2 more sources

Integrated genetic databases in the study of neuropsychiatric diseases: Inborn errors of cerebral metabolic pathways?

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 1991
1. Genetic databases are an expanding and readily accessible repository of information on the mapping and sequencing of the human genome, and that of other model organisms. The integration and application of this information to neuropsychiatric disease is illustrated using neuroendocrine and neuropharmacologic data, computerized and other genetic ...
Edmond Edwards, Martine Jaworski
openaire   +2 more sources

ICIEM Abstracts

Journal of Inherited Metabolic Disease, 2013
Background: Barth syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, infantile or childhood onset of cardioskeletal myopathy, and high mortality rates. It is currently unknown if BTHS related mitochondrial dysfunction results in substrate metabolism abnormalities and thereby contributes to cardioskeletal ...
M. Giovannini, C. Pederiva, M.E. Capra, P.C. Poli, S. Barberi, F. Salvini, E. Riva, E. Salvatici   +7 more
openaire   +6 more sources

Inborn errors of metabolism. Vitamin-responsive genetic disease.

Journal of clinical pathology. Supplement (Royal College of Pathologists), 1984
The several ways in which vitamin administration may bring about a biochemical response in genetic abnormalities have been discussed. Two major interrelated lessons emerge from what we now know about vitamin-responsive genetic disease. First, it is possible to enhance metabolite flow through partially deficient reactions by suitable manipulation of the
openaire   +1 more source