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JOURNAL OF INHERITED METABOLIC DISEASE, ISSN 0141-8955, 03/2019, Volume 42, Issue 2, pp. 295 - 302
Galactosialidosis (GS; OMIM #256540) is a rare multisystemic inborn glycoprotein storage disease caused by biallelic mutations in the cathepsin A gene... 
NEURAMINIDASE | MEDICINE, RESEARCH & EXPERIMENTAL | orphan disease | DISEASES | survival | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | drug development | BETA-GALACTOSIDASE | galactosialidosis | DEFICIENCY | radiological findings
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 474 - 474
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 975 - 983
Alpha‐mannosidosis (OMIM 248500) is a rare lysosomal storage disorder caused by a deficiency of the enzyme alpha‐mannosidase. Recently, enzyme replacement... 
drug development | orphan disease | alpha‐mannosidosis | MAN2B1 | quantitative natural history | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | alpha-mannosidosis | ENZYME REPLACEMENT THERAPY | SEVERITY | GAUCHER-DISEASE
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 5, pp. 524 - 530
Purpose: Farber disease (OMIM 22800) is an ultrarare progressive multisystemic neurodevelopmental storage disorder caused by a deficiency of the lysosomal... 
drug development | orphan disease | disseminated lipogranulomatosis | natural history | Farber disease | GENETICS & HEREDITY | HUMAN ACID CERAMIDASE | STEM-CELL TRANSPLANTATION | IDENTIFICATION | ENZYME REPLACEMENT THERAPY | DEFICIENCY | Enzymes
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 347 - 352
Purpose: Quantitative definition of the natural history of free sialic acid storage disease (SASD, OMIM 604369), an orphan disorder due to the deficiency of... 
Orphan disease | SLC17A5 | Drug development | Natural history | Sialic acid storage disease | TRANSPORTER | GENETICS & HEREDITY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2017, Volume 19, Issue 9, pp. 983 - 988
Purpose: The main purpose of the study was to provide quantitative data regarding survival and diagnostic delay. Mucopolysaccharidosis (MPS) type VII (OMIM... 
drug development | mucopolysaccharidosis | orphan disease | Sly disease | natural history | SYSTEM | LYSOSOMAL STORAGE DISEASE | MUCOPOLYSACCHARIDOSIS TYPE-VII | MODEL | DEFICIENCY | GAUCHER-DISEASE | MEDIATED GENE-THERAPY | GENETICS & HEREDITY | BETA-GLUCURONIDASE | ENZYME REPLACEMENT THERAPY | Enzymes
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2017, Volume 12, Issue 1, p. e0170742
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2018, Volume 49, Issue 4, pp. 269 - 275
Abstract Cranial magnetic resonance imaging (MRI) plays an important role in the diagnosis of neurometabolic diseases, and, in addition, temporal patterns of... 
Original Article | normal values | brainstem diameters | bicaudate ratio | MRI | MIDBRAIN DIAMETER | WHITE-MATTER | VOLUME | CEREBRAL ATROPHY | CLINICAL NEUROLOGY | MULTIPLE-SCLEROSIS | DISEASE | DISABILITY | INTEROBSERVER AGREEMENT | PEDIATRICS | LINEAR MEASUREMENTS
Journal Article
PEDIATRIC RESEARCH, ISSN 0031-3998, 08/2007, Volume 62, Issue 2, pp. 225 - 230
Isolated methylmalonic acidurias comprise a heterogeneous group of inborn errors of metabolism caused by defects of methylmalonyl-CoA mutase (MCM) (mut(0),... 
PROPIONATE | ACIDEMIA | MANAGEMENT | METABOLISM | PEDIATRICS | COMPLEMENTATION GROUP | IDENTIFICATION | DEFICIENCY | FIBROBLASTS
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 01/2019, Volume 42, Issue 1, pp. 117 - 127
Background Striatal injury in patients with glutaric aciduria type 1 (GA1) results in a complex, predominantly dystonic, movement disorder. Onset may be acute... 
MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | COENZYME | EFFICACY | BIOENERGETICS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | TIME | NATURAL-HISTORY | BRAIN | Nuclear magnetic resonance--NMR | Magnetic resonance imaging | Neostriatum | Aciduria | Dystonia | Putamen | Patients | Latency
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2208 - 2215
Purpose: Krabbe disease (OMIM 245200) is an orphan neurometabolic disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Hard... 
drug development | orphan disease | natural history | galactocerebrosidase deficiency | Krabbe disease | PHENOTYPE | PSYCHOSINE | DEFICIENCY | GALC | GENETICS & HEREDITY | OPTIC-NERVE ENLARGEMENT | INFANTILE FORM | GLOBOID-CELL LEUKODYSTROPHY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 580 - 590
Purpose: The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria... 
Locus-specific database | PKU | Tetrahydrobiopterin | Genotype–phenotype prediction | MOLECULAR-GENETICS | DIAGNOSIS | EXPRESSION ANALYSIS | HYPERPHENYLALANINEMIA | Genotype-phenotype prediction | GENETICS & HEREDITY | MUTATIONS | PHENYLALANINE-HYDROXYLASE DEFICIENCY
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, pp. 1 - 8
Journal Article
PLOS ONE, ISSN 1932-6203, 02/2019, Volume 14, Issue 2, p. e0212458
Background and aims Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They... 
ADENYLOSUCCINATE LYASE DEFICIENCY | LABELED INTERNAL STANDARDS | METABOLISM | MULTIDISCIPLINARY SCIENCES | UPDATE | TANDEM MASS-SPECTROMETRY | OROTIC ACIDURIA | HPLC | INBORN-ERRORS | ELECTROSPRAY-IONIZATION | CHILDREN | Urine | Usage | Diagnosis | Research | Biological markers | Assaying apparatus | Kidney stones | Alkaloids | Pyrimidines | Liquid chromatography
Journal Article
International Journal of Stress Management, ISSN 1072-5245, 02/2017, Volume 24, Issue 1, pp. 34 - 61
Journal Article
Brain, ISSN 0006-8950, 7/2009, Volume 132, Issue 7, pp. 1764 - 1782
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are... 
Striatum | Maturation | Metabolism | Brain injury | Neuroradiology | neuroradiology | 3-HYDROXYGLUTARIC ACID | WHITE-MATTER | COA DEHYDROGENASE-DEFICIENCY | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | maturation | brain injury | striatum | MOUSE MODEL | BLOOD-VESSELS | GERMINAL MATRIX | metabolism | ACIDEMIA TYPE-I | TIGHT JUNCTION PROTEINS | ENCEPHALOPATHIC CRISES | Neurological Impairments | Neonates | Brain | Diagnostic Tests | Screening Tests | Disabilities | Patients | Diseases | Brain Hemisphere Functions | Comparative Analysis | Head Injuries | Genetics | Injuries | Symptoms (Individual Disorders) | Age Factors | Follow-Up Studies | Humans | Middle Aged | Child, Preschool | Infant | Brain Diseases, Metabolic, Inborn - diagnosis | Amino Acid Metabolism, Inborn Errors - diagnosis | Atrophy | Young Adult | Amino Acid Metabolism, Inborn Errors - metabolism | Adult | Brain Diseases, Metabolic, Inborn - pathology | Child Development | Retrospective Studies | Amino Acid Metabolism, Inborn Errors - pathology | Child | Corpus Striatum - pathology | Infant, Newborn | Acute Disease | Brain Diseases, Metabolic, Inborn - metabolism | Movement Disorders - pathology | Intellectual Disability - pathology | Basal Ganglia - pathology | Brain Mapping - methods | Disease Progression | Cerebellum - pathology | Magnetic Resonance Imaging | Movement Disorders - etiology | Adolescent | Brain - pathology | Aged | Glutaryl-CoA Dehydrogenase - deficiency
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2019, Volume 86, Issue 1, pp. 116 - 128
Journal Article