Results 81 to 90 of about 7,545 (235)

Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report.

Revista chilena de pediatría, 2018
INTRODUCTION Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT).
Andrés Campolo González, A. Vargas Díaz, Daniel Fontboté Riesco, M. Hernández Chávez   +3 more
semanticscholar   +1 more source

Exploring the Possible Allosteric Binding Sites of Plasmodium falciparum Hypoxanthine‐Guanine‐Xanthine Phosphoribosyl Transferase (PfHGXPRT) with Iso‐Mukaadial Acetate and Ursolic Acid Acetate Using Computational Approaches

ChemistrySelect, Volume 10, Issue 10, March 11, 2025.
This study focuses on identifying potential allosteric pockets on PfHGXPRT that are structurally distinct from those on HsHGPRT. An in silico binding pocket workflow was employed integrating tools such as FTMap, FTSite, Protein Allosteric and Regulatory Sites (PARS), and the Protein Allosteric Sites Server (PaSSer). Identified pockets were evaluated by
Nicolaas Salomane, Ndumiso Nhlakanipho Mhlongo, Fortunate Mokoena, Thendo Mafuna, Mthokozisi Simelane   +4 more
wiley   +1 more source

The creation of transgenic animal “models” for human genetic disease [PDF]

, 1992
Transgenic animals will be created to study human genetic disease as soon as the technological capability exists to do so. Extant laws permit such animals to be created. The mindset of the research community makes it inevitable.
Rollin, Bernard E.
core  

High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability

Journal of Intellectual Disability Research, Volume 69, Issue 2, Page 137-152, February 2025.
Abstract Background Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals
B. K. Bulduk, J. Tortajada, L. Torres‐Egurrola, A. Valiente‐Pallejà, R. Martínez‐Leal, E. Vilella, H. Torrell, G. Muntané, L. Martorell   +8 more
wiley   +1 more source

The needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review

Journal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.
Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden, F. R. Vereijken, N. Frielink, P. J. C. M. Embregts   +3 more
wiley   +1 more source

The biochemical and molecular basis of Hypoxanthine-guanine phosphoribosyltransferase deficiency [PDF]

, 1996
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyses the first step in purine salvage. A complete deficiency of the enzyme results in the devastating neurological symptoms of the Lesch-Nyhan syndrome.
Marinaki, Anthony Marin
core  

Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies

Movement Disorders, Volume 39, Issue 11, Page 2110-2116, November 2024.
Abstract Background Despite considerable heritability, previous smaller genome‐wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. Objective The objective of this study was to perform a large‐scale GWAS in a well‐characterized, multicenter sample of >6000 individuals to identify genetic risk ...
Björn‐Hergen Laabs, Katja Lohmann, Eva‐Juliane Vollstedt, Tobias Reinberger, Lisa‐Marie Nuxoll, Gamze Kilic‐Berkmen, Joel S. Perlmutter, Sebastian Loens, Carlos Cruchaga, Andre Franke, Valerija Dobricic, Frauke Hinrichs, Anne Grözinger, Eckart Altenmüller, Steven Bellows, Sylvia Boesch, Susan B. Bressman, Kevin R. Duque, Alberto J. Espay, Andreas Ferbert, Jeanne S. Feuerstein, Samuel Frank, Thomas Gasser, Bernhard Haslinger, Robert Jech, Frank Kaiser, Christoph Kamm, Katja Kollewe, Andrea A. Kühn, Mark S. LeDoux, Ebba Lohmann, Abhimanyu Mahajan, Alexander Münchau, Trisha Multhaupt‐Buell, Alexander Pantelyat, Sarah E. Pirio Richardson, Deborah Raymond, Stephen G. Reich, Rachel Saunders Pullman, Barbara Schormair, Nutan Sharma, Azadeh Hamzehei Sichani, Kristina Simonyan, Jens Volkmann, Aparna Wagle Shukla, Juliane Winkelmann, Laura J. Wright, Michael Zech, Kirsten E. Zeuner, Simone Zittel, Meike Kasten, Yan V. Sun, Tobias Bäumer, Norbert Brüggemann, Laurie J. Ozelius, Hyder A. Jinnah, Christine Klein, Inke R. König   +57 more
wiley   +1 more source

Bipolar affective disorder: A review of novel forms of therapy

Current Issues in Pharmacy and Medical Sciences, 2015
Normothymic, antidepressant and antipsychotic pharmaceutics are, in accordance with international guidelines, employed both in the therapy and the prevention of bipolar disorder (BD).
Dziwota Ewelina, Drapala Barbara, Gaj Magdalena, Skoczen Nikodem, Olajossy Marcin   +4 more
doaj   +1 more source

Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]

, 2008
Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael, Romance García, Ana, Romero Maroto, Martín, Simón de las Heras, Rogelio   +3 more
core  

A systematic review and meta‐analysis of the effectiveness of interventions targeting the parent–child relationship in families of children with an intellectual disability

Journal of Applied Research in Intellectual Disabilities, Volume 37, Issue 6, November 2024.
Abstract Background The review aimed to investigate the effectiveness of parent–child relationship interventions for families of children with intellectual disability up to 12 years old. Methods Quasi‐experimental or randomised controlled trials (RCTs) of interventions targeting the parent–child relationship where ≥50% of children had an intellectual ...
Freya Westlake, Meryl Westlake, Vaso Totsika   +2 more
wiley   +1 more source