Results 311 to 320 of about 639,109 (351)

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

An updated review on Mendelian susceptibility to mycobacterial diseases– a silver jubilee celebration of its first genetic diagnosis

Expert Review of Clinical Immunology, 2021
Introduction: Mendelian susceptibility to mycobacterial diseases (MSMD), a group of at least 18 different genetic disorders, encompasses a specific class of inborn errors of immunity that result in predilection to infection with mycobacteria including ...
Jhumki Das, A. Banday, Jitendra Kumar Shandilya, Madhubala Sharma, P. Vignesh, A. Rawat   +5 more
semanticscholar   +1 more source

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

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

Hepatology, 2022
Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States.
Disha Sharma, G. Ben Yakov, D. Kapuria, Gracia M Viana Rodriguez, Meital A Gewirtz, J. Haddad, D. Kleiner, C. Koh, J. Bergerson, A. Freeman, T. Heller   +10 more
semanticscholar   +1 more source

Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases.

Genetic Testing and Molecular Biomarkers, 2014
For inborn errors of metabolism, high resolution melting analysis (HRMA) is a rapid, efficient, simple, and inexpensive method for mutation/rare variant screening.
F. Ezgu, Yoruk Divanoglu, M. Polat, S. Bahceci, A. Hasanoğlu, R. Desnick   +5 more
semanticscholar   +1 more source

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity

Journal of Clinical Immunology, 2021
H. Kuehn, C. J. Nunes-Santos, S. Rosenzweig   +2 more
semanticscholar   +1 more source

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

[Human genetic aspects of inborn ear, nose, and throat diseases].

HNO, 1985
The genetic analysis of malformations enables us to distinguish four groups of different anomalies: 1. Chromosomal disorders (gene and chromosome mutations). 2. Single (monogenic) hereditary anomalies and malformations (gene mutations: point-mutations). 3. Malformations with polygenic multifactorial basis (combination of genetic and exogenous factors).
openaire   +1 more source

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Journal of Clinical Immunology, 2022
A. Bousfiha, Abderrahmane Moundir, S. Tangye, C. Picard, L. Jeddane, W. Al-Herz, C. C. Rundles, J. Franco, S. Holland, C. Klein, T. Morio, É. Oksenhendler, A. Puel, J. Puck, M. Seppänen, R. Somech, H. Su, K. Sullivan, T. Torgerson, I. Meyts   +19 more
semanticscholar   +1 more source

Genetic susceptibility to EBV infection: insights from inborn errors of immunity

Human Genetics, 2020
S. Tangye
semanticscholar   +1 more source