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Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2013, Volume 36, Issue 1, pp. 1 - 6
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2016, Volume 96, pp. 323 - 334
... leukodystrophy Canavan disease caused by mutations to the sole NAA catabolizing enzyme aspartoacylase. Canavan disease is a major point of focus for efforts to define NAA... 
Neurology | Canavan disease | Aspartoacylase | Myelination | Energy | N-acetylaspartate | HUMAN BRAIN | LIPID-SYNTHESIS | ACETYL GROUPS | NEUROSCIENCES | SPONGY DEGENERATION | CANAVAN-DISEASE | MOUSE MODEL | CENTRAL-NERVOUS-SYSTEM | GENE-TRANSFER | RAT-BRAIN | MOTOR DEFICITS | Dependovirus - genetics | Neurodegenerative Diseases - etiology | Humans | Brain - enzymology | Child, Preschool | Infant | Male | Green Fluorescent Proteins - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Aspartic Acid - genetics | Canavan Disease - diagnostic imaging | Basic Helix-Loop-Helix Transcription Factors - metabolism | Canavan Disease - genetics | HEK293 Cells | Female | Canavan Disease - pathology | Energy Metabolism - genetics | Child | Amidohydrolases - metabolism | Green Fluorescent Proteins - metabolism | Myelin Sheath - physiology | Basic Helix-Loop-Helix Transcription Factors - genetics | Canavan Disease - complications | Myelin Basic Protein - metabolism | Gene Expression Regulation - genetics | Amidohydrolases - genetics | Mice, Transgenic | Neurodegenerative Diseases - genetics | Disease Progression | Animals | Movement Disorders - etiology | Brain - pathology | Aspartic Acid - metabolism | Oligodendroglia - enzymology | Mice | Aspartic Acid - analogs & derivatives | Synthesis | Genetic vectors | Analysis | Physiological aspects | Aspartate | Gene therapy | Fatty acids | aspartoacylase | energy
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 366, pp. 116 - 124
Journal Article
Journal Article
Critical Reviews in Clinical Laboratory Sciences, ISSN 1040-8363, 2003, Volume 40, Issue 4, pp. 473 - 497
... (Tay-Sachs disease, Cystic fibrosis, Canavan disease, Gaucher disease, Familial Dysautonomia, Niemann-Pick disease, Fanconi anemia, and Bloom syndrome... 
Canavan disease | Niemann-Pick disease | screening | Bloom syndrome | Ashkenazi Jewish | Tay-Sachs disease | Gaucher disease | Fanconi anemia | prenatal | Thalassemia | Cystic fibrosis | Familial Dysautonomia | Prenatal | Screening | thalassemia | ACID SPHINGOMYELINASE GENE | BETA-THALASSEMIA MUTATIONS | famili dysautonomia | ASHKENAZI JEWISH POPULATION | FANCONI-ANEMIA | COMMON MISSENSE MUTATION | NIEMANN-PICK-DISEASE | cystic fibrosis | SICKLE-CELL-DISEASE | DOT-BLOT ANALYSIS | MEDICAL LABORATORY TECHNOLOGY | TAY-SACHS-DISEASE | PRENATAL-DIAGNOSIS | Thalassemia - diagnosis | Guidelines as Topic | Genes, Recessive - genetics | Humans | Male | Genetic Testing - methods | Tay-Sachs Disease - genetics | Canavan Disease - diagnosis | Canavan Disease - genetics | Niemann-Pick Diseases - enzymology | Chromosome Disorders - diagnosis | Female | Niemann-Pick Diseases - diagnosis | Fanconi Anemia - genetics | Bloom Syndrome - diagnosis | Canavan Disease - enzymology | Thalassemia - genetics | Niemann-Pick Diseases - genetics | Gaucher Disease - enzymology | Tay-Sachs Disease - enzymology | Tay-Sachs Disease - diagnosis | Bloom Syndrome - genetics | Fanconi Anemia - diagnosis | Gaucher Disease - genetics | Cystic Fibrosis - genetics | Cystic Fibrosis - diagnosis | Dysautonomia, Familial - diagnosis | Gaucher Disease - diagnosis | Chromosome Disorders - genetics | Genetic Carrier Screening | Dysautonomia, Familial - genetics
Journal Article