Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]
, 2013 Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A +9 more
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Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio +7 more
wiley +1 more source
Lesch-Nyhan syndrome: A case report
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008 Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching.
Kale A, Shah K, Hallikerimath S
doaj
X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo [PDF]
, 1982 Electrophoretic variant forms of the X-linked enzyme phosphoglycerate kinase (PGK-1, E.C.2, 7, 2, 3) have been used to examine X-chromosome mosaicism in tissues from 121/2-day post coitum heterozygous female mouse embryos.
Fosten, M., McMahon, A., Monk, M.
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Disability, Relational Equality, and the Expressivist Objection
Hastings Center Report, Volume 55, Issue 2, Page 15-25, March‐April 2025.Abstract Proponents of the expressivist objection argue that the use and provision of testing to select against disability in offspring express negative judgments about existing persons with disabilities. But does the expression of such judgments also wrong those persons?
Erik Magnusson
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 +4 more
doaj +1 more source
β-Amyloid precursor protein (APP) and the human diseases
AIMS Neuroscience, 2019 Several pathophysiological functions of the human β-amyloid precursor protein (APP) have been recently proposed in different human diseases such as neurodevelopmental and neurodegenerative disorders including rare diseases such as autism, fragile X ...
Khue Vu Nguyen
doaj +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
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Oral self-injuries: clinical findings in a series of 19 patients [PDF]
, 2014 Objectives: Self-injury (SI) is defined as a behavioral disturbance consisting of a deliberate harm to one’s own body without suicidal intent, it is not uncommon and ranges in severity from simple nail-biting to more extreme forms of self-mutilation ...
Campisi, Giuseppina +4 more
core +1 more source
Wormwholes: A Commentary On K.F. Schaffer\u27s Genes, Behavior, And Developmental Emergentism [PDF]
, 1998 Although Caenorhabditis elegans was chosen and modified to be an organism that would facilitate a reductionist program for neurogenetics, recent research has provided evidence for properties that are emergent from the neurons. While neurogenetic advances
Gilbert, Scott F., Jorgensen, E. M.
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