Results 81 to 90 of about 122,438 (258)

The Integrity of Thinking [PDF]

, 2018
When we look at our political landscape today, I wonder where has our integrity gone? Teachers want to know how to explain (if that’s the right word) the language and behavior of the current American president to children in their ...
Tillmanns, Maria daVenza
core  

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]

, 2019
Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R, Chapman, Kimberly A, Cunningham, Gary, Forny, Patrick, Pumbo, Elena, Summar, Marshall L, Wongkittichote, Parith   +6 more
core   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

Evaluation of animal welfare on organic dairy farms in Finland [PDF]

, 2000
The evaluation of animal welfare on organic dairy farms was carried out in connection with the first Finnish research study on animal healthcare and welfare in 1996 to 1998.
Roiha, Ulla
core  

High‐Dose L‐Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature

JIMD Reports
Seryl‐tRNA synthetase 1 (SARS1) deficiency is a rare autosomal recessive disorder presenting with neurodevelopmental delay, deafness, cardiomyopathy, and fatal metabolic decompensation triggered by febrile episodes.
Victor Andrès Valle, Arnaud Wiedemnan, Eva Feigerlova, David Coelho, Elise Jeannesson, Irina Rotaru, Marc Merten, Alexandre Raharimanana, François Feillet, Jean‐Marie Ravel   +9 more
doaj   +1 more source

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source

Cystinuria: an inborn cause of urolithiasis [PDF]

, 2012
Thomas Eggermann, Andreas Venghaus, Klaus Zerres   +2 more
openalex   +1 more source

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity

, 2020
Bertrand Boisson
openalex   +2 more sources

Clinical and genetic characteristics of boys with congenital hypogonadotropic hypogonadism: a single-center experience

BMC Pediatrics
Context Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by deficient secretion or action of gonadotropin-releasing hormone. While its characteristics are well-documented in adults, data from prepubertal patients remain limited ...
Dongxia Fu, Yongxing Chen, Xue Wu, Huizhen Wang, Jing Gao, Haiyan Wei   +5 more
doaj   +1 more source