Results 71 to 80 of about 631,764 (332)

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, S N, Sarbadhikari, S, Kavitha   +2 more
core   +1 more source

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics. [PDF]

, 2020
Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood.
Gariani, K., Nascimento, M., Superti-Furga, A., Tran, C.   +3 more
core   +2 more sources

Inborn errors of T cell immunity underlying autoimmune diseases

Expert Review of Clinical Immunology, 2017
Immunopathological diseases have traditionally been classified as autoimmune/inflammatory, allergic, and primary immunodeficiency (PID) conditions.
L. Maródi
semanticscholar   +1 more source

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

Scientific Reports, 2022
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency’s and other disorders affecting different aspects of the immune system.
A. Rawat, Madhubala Sharma, P. Vignesh, A. Jindal, D. Suri, Jhumki Das, Vibhu Joshi, R. Tyagi, Jyoti Sharma, G. Kaur, Y. Lau, K. Imai, S. Nonoyama, M. Lenardo, Surjit Singh   +14 more
semanticscholar   +1 more source

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023
Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicholas W. Morrell, Susan Christian   +5 more
wiley   +1 more source

Pulmonary involvement in siblings with Gaucher disease type III [PDF]

Vojnosanitetski Pregled, 2011
Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a ...
Đorđević Maja, Minić Predrag, Sarajlija Adrijan, Đuričić Slaviša M., Đokić Dragomir, Marković Obren   +5 more
doaj   +1 more source

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

International Journal of Molecular Sciences, 2022
Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed use as a second-tier technology for confirming cases ...
Alejandro Soriano-Sexto, Diana Gallego, F. Leal, Natalia Castejón-Fernández, R. Navarrete, P. Alcaide, M. Couce, E. Martín‐Hernández, P. Quijada-Fraile, L. Peña-Quintana, R. Yahyaoui, Patricia Correcher, M. Ugarte, P. Rodríguez-Pombo, B. Pérez   +14 more
semanticscholar   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source

Intrinsic aerobic capacity sets a divide for aging and longevity [PDF]

, 2011
<p><b>Rationale:</b> Low aerobic exercise capacity is a powerful predictor of premature morbidity and mortality for healthy adults as well as those with cardiovascular disease.
Charles F. Burant, Elizabeth M. van Grevenhof, Godfrey L. Smith, Helene Wisløff, John E. Wilkinson, Lauren Gerard Koch, Lori J. Gilligan, Morten A. Høydal, Natale Rolim, Nathan Qi, Ole J. Kemi, Peter M. Abadir, Piter Bijma, Sean X. Leng, Steven L. Britton, Tosato M, Ulrik Wisløff, Øyvind Ellingsen   +17 more
core   +3 more sources