Results 21 to 30 of about 618,834 (263)

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report

Italian Journal of Pediatrics, 2022
Background Albright’s hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene is maternally inherited or to ...
Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou   +4 more
doaj   +1 more source

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Nature Communications, 2021
Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios
Yurong Cheng, P. Schlosser, Johannes Hertel, P. Sekula, P. Oefner, U. Spiekerkoetter, J. Mielke, Daniel F. Freitag, M. Schmidts, Peter J. Florian Kai-Uwe Oefner Kronenberg Eckardt, F. Kronenberg, K.-U. Eckardt, F. Kronenberg, K.-U. Eckardt, I. Thiele, Yong Li, A. Köttgen   +16 more
semanticscholar   +1 more source

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

Frontiers in Physiology, 2021
Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
C. Montanari, S. Parolisi, E. Borghi, L. Putignani, G. Bassanini, J. Zuvadelli, Cristina Bonfanti, Albina Tummolo, C. Dionisi Vici, Giacomo Biasucci, A. Burlina, M. T. Carbone, E. Verduci   +12 more
semanticscholar   +1 more source

Emphasized the diagnosis and therapy of curative neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj   +1 more source

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

Indian Journal of Pediatrics, 2021
To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India.
H. Lashkari, M. Madkaikar, A. Dalvi, Maya Gupta, J. Bustamante, Madhubala Sharma, A. Rawat, P. Bhatia, K. Bhat, Sadashiva Rao, N. Kamath, Faheem Moideen, S. Latour, Sarah Winter, G. Bhavani, K. Girisha   +15 more
semanticscholar   +1 more source

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon

Frontiers in Genetics, 2022
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon.
Doaa O. Salman, Rami Mahfouz, Elio R. Bitar, Jinane Samaha, Jinane Samaha, Pascale E. Karam, Pascale E. Karam   +6 more
doaj   +1 more source

Rare genetic causes of meningitis and encephalitis [PDF]

Encephalitis, 2022
Differential diagnosis of meningitis and encephalitis is often very challenging because it cannot be determined based on symptoms, and the diseases have various causes.
Jangsup Moon
doaj   +1 more source

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity [PDF]

Seminars in Immunology, 2014
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does
Jacinta, Bustamante, Stéphanie, Boisson-Dupuis, Laurent, Abel, Jean-Laurent, Casanova   +3 more
openaire   +2 more sources

Systematic genetic analysis of pediatric patients with autoinflammatory diseases

Frontiers in Genetics, 2023
Monogenic autoinflammatory diseases (AID) encompass a growing group of inborn errors of the innate immune system causing unprovoked or exaggerated systemic inflammation.
Yvonne Poker, Sandra von Hardenberg, W. Hofmann, M. Tang, U. Baumann, N. Schwerk, M. Wetzke, V. Lindenthal, B. Auber, B. Schlegelberger, H. Ott, P. von Bismarck, D. Viemann, F. Dressler, C. Klemann, A. Bergmann   +15 more
semanticscholar   +1 more source

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of Clinical Immunology, 2022
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 ...
S. Tangye, W. Al-Herz, A. Bousfiha, C. Cunningham-Rundles, J. Franco, S. Holland, C. Klein, T. Morio, É. Oksenhendler, C. Picard, A. Puel, J. Puck, M. Seppänen, R. Somech, H. Su, K. Sullivan, T. Torgerson, I. Meyts   +17 more
semanticscholar   +1 more source