Results 191 to 200 of about 2,729,552 (357)

Acetaminophen pharmacokinetics in infants and children with congenital heart disease

Pediatric Anesthesia, Volume 33, Issue 1, Page 46-51, January 2023., 2023
Abstract Background Acetaminophen is routinely used for perioperative analgesia in children undergoing major surgical procedures. There are few estimates of acetaminophen pharmacokinetic parameters in children with congenital heart disease, especially those with cyanotic heart disease.
Jay Holladay, Peter Winch, James Morse, Brian J. Anderson, Christopher T. McKee, Julie Rice‐Weimer, Joseph D. Tobias   +6 more
wiley   +1 more source

An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum

, 1978
Emanuel Epstein
openalex   +2 more sources

Inborn Errors of Metabolism: Garrod’s Legacy [PDF]

, 1996
Alexander G. Bearn
openalex   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
europepmc   +1 more source

The landscape of CRISPR/Cas9 for inborn errors of metabolism. [PDF]

Mol Genet Metab, 2023
Leal AF, Fnu N, Benincore-Flórez E, Herreño-Pachón AM, Echeverri-Peña OY, Alméciga-Díaz CJ, Tomatsu S.   +6 more
europepmc   +1 more source

Heterozygous germline TET2 loss‐of‐function variants associated with an ALPS‐like phenotype

British Journal of Haematology, EarlyView.
Summary Germline homozygous loss‐of‐function mutations in TET2 result in significant childhood immunodeficiency that resembles autoimmune lymphoproliferative syndrome and predisposes one to lymphoma. The implications of heterozygous variants are less well understood.
Sean Harrop, Joshua Casan, Hannah Rose, Michael Sullivan, Sam Mehr, Henry Ngu, Imogen Caldwell, Joseph McKendrick, Mary Ann Anderson, Nicole Den Elzen, Erin Goode, Lucy C. Fox, Stephen Lade, Piers Blombery   +13 more
wiley   +1 more source

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge, Nathalie Bourg, Emilie Pellier, Johana Tournois, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, Xavier Nissan   +10 more
wiley   +1 more source

Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?

, 1979
Shiro Hayashi, A. Kimura, Ryoichi Hoshino, Kiyoshi Takahashi, KOICHI TSURUMI   +4 more
openalex   +2 more sources

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]

, 1995
Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall, Douglas Little   +3 more
openalex   +1 more source

Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism [PDF]

, 2000
Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand, Martin Lindner, Georg F. Hoffmann, Ronald J. A. Wanders, Ertan Mayatepek   +6 more
openalex   +1 more source