Results 61 to 70 of about 5,336 (157)
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 +3 more
core
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
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse [PDF]
, 2011 Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious ...
Edwards, Gaylen L. +6 more
core +4 more sources
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
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
core
Renal Failure, 2020 Background Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.
Cahyani Gita Ambarsari +6 more
doaj +1 more source
Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors [PDF]
, 2018 The growing evidence of the involvement of purine compounds in signaling, of nucleotide imbalance in tumorigenesis, the discovery of purinosome and its regulation, cast new light on purine metabolism, indicating that well known biochemical pathways may ...
Allegrini, Simone +5 more
core +1 more source
A case of attempted bilateral self-enucleation in a patient with bipolar disorder
Mental Illness, 2017 Attempted and completed self-enucleation, or removal of one’s own eyes, is a rare but devastating form of self-mutilation behavior. It is often associated with psychiatric disorders, particularly schizophrenia, substance induced psychosis, and bipolar ...
Hannah Muniz Castro +4 more
doaj +1 more source
HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain [PDF]
, 2023 Alterations in function of hypoxanthine guanine phosphoribosyl transferase (HPRT), one of the major enzymes involved in purine nucleotide exchange, lead to overproduction of uric acid and produce various symptoms of Lesch-Nyhan syndrome (LNS). One of the
Abramov, AY +8 more
core
Epidemiology and types of urolithiasis
Pediatria i Medycyna Rodzinna, 2019 Urolithiasis is a lifestyle disease. Sex, age, race, place of residence (geographical region), chronic diseases, lifestyle (including diet) and various genetic factors contribute to the risk of calculus formation within the urinary tract.
Agnieszka Szmigielska +2 more
doaj +1 more source