Results 91 to 100 of about 122,438 (258)

Some Inherited Disorders of Brain and Muscle: Proceedings of The Fifth Symposium of The Society for the Study of Inborn Errors of Metabolism [PDF]

, 1970

openalex   +1 more source

A Novel Nomogram for Predicting Gonadotropin-Releasing Hormone Analogue Treatment Outcome in Girls with Idiopathic Central Precocious Puberty

International Journal of Women's Health
Shiyi Xu,1 Limei Guan,1,2 Qiuting Lin,1 Hui Liu1,2 1College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350000, People’s Republic of China; 2Department of Endocrinology and Inborn Metabolic ...
Xu S, Guan L, Lin Q, Liu H
doaj  

Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity [PDF]

, 2023
Michael Setzer, Yan Jia, Lori H. Erby, Morgan Similuk   +3 more
openalex   +1 more source

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula, Böhles, Hansjosef, Goeters, Christiane, Schulz, Ralf-Joachim, Stein, Jürgen   +4 more
core  

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source

Inborn anemias in mice. Comprehensive progress report, May 1, 1970--April 30, 1973

, 1973
Elizabeth S. Russell, S E Bernstein
openalex   +2 more sources

Some Philosophical Remarks on Educating Genuine Leaders [PDF]

, 2012
The author intends to make an appeal for paying closer attention to human nature in educating genuine leaders. His philosophical approach embraces following topics: (1) whether leaders are born with talents and traits that allow, or even cause, them to ...
Tarasiewicz, Pawel
core  

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

, 2021
Franck Rapaport, Bertrand Boisson, Anne Gregor, Vivien Béziat, Stéphanie Boisson‐Dupuis, Jacinta Bustamante, Emmanuelle Jouanguy, Anne Puel, Jérémie Rosain, Qian Zhang, Shen‐Ying Zhang, Joseph G. Gleeson, Lluís Quintana‐Murci, Jean‐Laurent Casanova, Laurent Abel, Étienne Patin   +15 more
openalex   +2 more sources

Is susceptibility to severe COVID‐19 disease an inborn error of metabolism? [PDF]

, 2020
Peter T. Clayton
openalex   +1 more source