Malmström-Groth AG, Kristensson K (1982). "Neuroaxonal dystrophy in childhood. Report of two second cousins with PKAN, and a ... or neuroaxonal dystrophy; and Lewy bodies. Phosphopantothenate has been shown to treat PKAN in a human, and also in a mouse ...
Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation Infantile neuroaxonal dystrophy: demonstrating that it ... "PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy". American Journal of Human Genetics. 79 (5): 942-948. doi:10.1086/ ...
... a neuroaxonal dystrophy". Acta Neuropathologica. 116 (3): 331-6. doi:10.1007/s00401-008-0362-6. PMID 18347805. S2CID 22881684. ...
"TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs". PLOS ONE. 10 (11). doi:10.1371/journal.pone.0141824. PMC ... Distichia Cherry eye Neuroaxonal dystrophy Originally there were three separated populations of SWD in Spain with somewhat ...
... such as various neuroaxonal dystrophies, also have α-synuclein pathologies. The synucleinopathies have shared features of ...
Patatin-like phospholipase Infantile neuroaxonal dystrophy "phospholipase" at Dorland's Medical Dictionary Molinari, Giuliano; ...
Huntington's disease Infantile neuroaxonal dystrophy Keratoconus (KC) Keratoglobus Leukodystrophies Macular degeneration (AMD) ... "Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review". Experimental and Therapeutic ... Shin, J; Tajrishi, MM; Ogura, Y; Kumar, A (2013). "Wasting Mechanisms in Muscular Dystrophy". The International Journal of ... Multiple system atrophy Muscular dystrophies (MD) Neuronal ceroid lipofuscinosis Niemann-Pick diseases Osteoarthritis ...
Other symptoms include neuroaxonal dystrophy from birth, discoloration of skin, Telangiectasia or widening of blood vessels. ... the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy". J. Clin. ...
... the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy". The Journal ...
... the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy". J. Clin. ...
"Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases". ...
Neuroaxonal dystrophy, Gaucher's disease, Sialidosis, and Galactosialidosis should be considered. To quantify the extent of the ...
... muscular dystrophy, necrotizing meningoencephalitis and neuroaxonal dystrophy.:3 In a radiographical study of canine ...
Infantile neuroaxonal dystrophy Multiple complex developmental disorder Multisystem developmental disorder Overactive disorder ...
... fatty acid RT001 as a treatment for neurodegenerative diseases such as Friedreich's ataxia and infantile neuroaxonal dystrophy ...
... neuroaxonal dystrophies MeSH C10.228.140.744.320 - hallervorden-spatz syndrome MeSH C10.228.140.870 - subdural effusion MeSH ... muscular dystrophies, limb-girdle MeSH C10.668.491.175.500.300 - muscular dystrophy, duchenne MeSH C10.668.491.175.500.350 - ... muscular dystrophy, emery-dreifuss MeSH C10.668.491.175.500.400 - muscular dystrophy, facioscapulohumeral MeSH C10.668.491.175. ... 500.450 - muscular dystrophy, oculopharyngeal MeSH C10.668.491.175.500.500 - myotonic dystrophy MeSH C10.668.491.175.750 - ...
... is in a compassionate use trial in infantile neuroaxonal dystrophy and has successfully completed a Phase I/II trial in ...
An open-label clinical study for infantile neuroaxonal dystrophy evaluating long-term evaluation of efficacy, safety, ... "A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy" at ClinicalTrials.gov "US FDA ...
"A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy" at ClinicalTrials.gov Inacio, ... and pharmacokinetics of RT001 in the treatment of Infantile Neuroaxonal Dystrophy started in the Summer 2018. After a petition ...
An open-label clinical study for infantile neuroaxonal dystrophy evaluating long-term evaluation of efficacy, safety, ... "A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy" at ClinicalTrials.gov "US FDA ...
Neuritis with brachial predilection Neuroacanthocytosis Neuroaxonal dystrophy renal tubular acidosis Neuroaxonal dystrophy, ...
... cause an infantile neuroaxonal dystrophy known as Schindler disease. In some cases, signs and symptoms of infantile neuroaxonal ... Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 ... Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. ... Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy ...
Horses may also develop a more chronic delayed form of the disease called Neuroaxonal Dystrophy (NAD) or Equine Degenerative ... Nutritional Muscular Dystrophy (Nutritional Myopathy or White Muscle Disease) is a disease caused by a deficiency of selenium ... Abutarbush, Sameeh M.; Radostits, Otto M. (2017-04-06). "Congenital nutritional muscular dystrophy in a beef calf". The ...
IKBKG Infantile neuroaxonal dystrophy 1; 256600; PLA2G6 Inflammatory bowel disease 25; 612567; CRFB4 Insensitivity to pain, ... GUCA1A Cone-rod dystrophy 15; 613660; CDHR1 Cone-rod dystrophy 3; 604116; ABCA4 Cone-rod dystrophy 5; 600977; PITPNM3 Cone-rod ... dystrophy; 601777; GUCY2D Cone-rod dystrophy 7; 603649; RIMS1 Cone-rod dystrophy 9; 612775; ADAM9 Cone-rod dystrophy, X-linked ... GUCA1A Cone-rod dystrophy 10; 610283; SEMA4A Cone-rod dystrophy 11; 610381; RAXL1 Cone-rod dystrophy 12; 612657; PROM1 Cone-rod ...