Results 261 to 270 of about 39,998 (271)

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 ...
M A Jaworski, Edmond Edwards
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[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).
Grete Helen Meisfjord Jørgensen
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Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 5, Status: Authorised

Case Medical Research, 2019
Case Medical Research
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[Early diagnosis of inborn metabolic diseases--genetic metabolic disorders which may cause mental deficiency. Studies in North Rhine-Westfalia].

Munchener medizinische Wochenschrift (1950), 1972
Felix Menne, I Hass
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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
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Refsum's disease (heredopathia atactica polyneuritiformis)

Human Genetics, 1965
R, Richterich, S, Rosin, E, Rossi
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Book Review Inborn Metabolic Diseases: Diagnosis and Treatment Third edition. Edited by J. Fernandes, J.-M. Saudubray, and G. Van den Berghe. 467 pp., illustrated. New York, Springer-Verlag, 2000. $119. 3-540-65626-X Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology By Enid Gilbert-Barness and Lewis A. Barness. 930 pp. in two volumes, illustrated. Natick, Mass., Eaton, 2000. $279. 1-881299-11-2

New England Journal of Medicine, 2001
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[Carriers of pathogenic variants in inborn errors of immunity: genetic associations with disease].

Jing Zhao, Xiaoqing Wei, Xiaodong Zhao, Yunfei An   +3 more
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Reproductive Decisions in Carriers of Genetic Disease: A Survey of Parents of Children with Inborn Errors of Metabolism

, 2019
Catherine Y. Read
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Symposium on inborn errors of metabolism: mechanisms in genetic diseases of man.

The American journal of medicine, 2002
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