Results 81 to 90 of about 153,170 (259)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Hepatic metabolism of guanidinoacetic acid on broilers [PDF]

Revista Brasileira de Zootecnia
The objective of this study was to evaluate the hepatic metabolism and performance of broilers fed reduced-energy diets (50 kcal/kg less), with or without guanidinoacetic acid (GAA).
Paulo Henrique Sousa da Paz, Heloisa Helena de Carvalho Mello, Fabyola Barros de Carvalho, José Henrique Stringhini, Emmanuel Arnhold, Michel Blézins de Arruda, Isobel Margaret Whiting, Vasil Radoslavov Pirgozliev, Marcos Barcellos Café   +8 more
doaj   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Arginine metabolism in uricotelic species = Metabolismo da arginina em espécies uricotélicas

Acta Scientiarum: Animal Sciences, 2010
Due to the lack of a complete urea cycle, uricotelic species, such as broilers, are not able to synthesize de novo arginine (Arg), thus depending exclusively on dietary Arg.
Jovanir Inês Müller Fernandes, Alice Eiko Murakami   +1 more
doaj  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

The estimation of creatine [PDF]

Biochemical Journal, 1948
A H, Ennor, L A, Stocken
openaire   +2 more sources

Electroenzymatic CO2 Fixation

Angewandte Chemie International Edition, EarlyView.
Electroenzymatic CO2 fixation enables energy‐efficient, highly selective synthesis of complex molecules. Unlocking its full potential requires fundamental understanding of electrode‐coupled reductases and carboxylases. This review critically discusses available enzymes, product scope, and key thermodynamic and kinetic considerations, highlighting ...
Leonardo Castañeda‐Losada, Michael Richter, Christophe Léger, Vincent Fourmond, Nicolas Plumeré   +4 more
wiley   +1 more source

Controlling the Guanidinium Cation Rotation by Cation–π Interactions

Angewandte Chemie International Edition, EarlyView.
A lanthanide π‐container has been employed to trap a guanidinium cation inside the aromatic cavity by cation–π interactions. X‐ray crystallography and solid‐state nuclear magnetic resonance (NMR) spectroscopy at fast magic‐angle spinning (MAS) frequencies have been utilized to probe the underlying host–guest interactions.
Hannah Busch, Lennart Günzel, Ettore Bartalucci, Robert Schuster, Christian Zocher, Martin Börner, Chandan K. Das, Florian Taube, Björn Corzilius, Maria Fyta, Matthias Ernst, Berthold Kersting, Thomas Wiegand   +12 more
wiley   +1 more source