List of all assigned tags
A
- ABCD1 (1)
- Acute lymphoblastic leukemia (1)
- Acute myeloid leukemia (AML) (2)
- Adrenoleukodystrophy (1)
- Albinism (2)
- Alport syndrome (2)
- Alzheimer's disease (5)
- Amino acid disorders (1)
- Amyotrophic lateral sclerosis (ALS) (3)
- Apoptosis (1)
- Arylindolylmaleimide (1)
- ASAH1 (1)
- Ashkenazi Jewish population (1)
- Asparagine synthetase deficiency (1)
- Autosomal dominant (65)
- Autosomal recessive (78)
B
- Bardet–Biedl syndrome (1)
- Biochemical analysis (3)
- BioFarber (4)
- BioGaucher (7)
- BioGM1/BioGM2 (1)
- BioHurler (1)
- Bioinformatics (3)
- BioNPC (5)
C
- C26-Ceramide (2)
- Cardiac troponin I (1)
- Cardiomyopathies (8)
- Carrier Screening (2)
- Case Report (11)
- Cerebellum (1)
- CFTR (2)
- Channelopathy (1)
- Charcot-Marie-Tooth (CMT) (2)
- Cholesterol (1)
- Chondrodysplasia (1)
- Ciliopathy (3)
- cMRI (1)
- Cobalamin (1)
- Compound heterozygosity (1)
- Congenital cataract (1)
- Congenital heart disease (1)
- Congenital nephrotic syndrome (1)
- Connective tissue disorders (2)
- Cornelia de Lange Syndrome (CdLS) (1)
- Crawling gait (1)
- Cystic fibrosis (2)
D
- Degenerative ataxia (3)
- Dejerine-Sottas syndrome (DSS) (2)
- Deletion (6)
- Dementia (6)
- Demyelination (1)
- Dentate nucleus (1)
- Developmental delay (12)
- Differential diagnosis (1)
- Digenic recessive (2)
- DNA extraction (1)
- Dorsal root ganglion (1)
- Dystonia (6)
- DYT1 (1)
E
- Ehlers-Danlos syndrome (EDS) (2)
- Endoplasmic reticulum (2)
- Enzyme inhibitors (2)
- Enzyme replacement therapy (7)
- Epilepsy (5)
- Epileptic encephalopathy (5)
- Etiology (1)
F
- FA2H (1)
- Fabry disease (21)
- FAM 134 B (1)
- Familial hypercholesterolemia (1)
- Farber Disease (4)
- Focal dermal hypoplasia (1)
- Fragile X syndrome (1)
- Frataxin (1)
- Friedreich ataxia (2)
- Frontotemporal dementia (3)
G
- GAA (1)
- GALC (1)
- GALNS (3)
- Gaucher disease (17)
- GBA mutation (6)
- GFAP (1)
- GLA (3)
- Globoid cells leukodystrophy (2)
- Glucocerebrosidase (1)
- Gluconeogenesis (1)
- Glucosylsphingosine (5)
- Glycogen storage diseases (2)
- Glycogen Synthase Kinase 3β (1)
- GM2-gangliosidosis type II (3)
- GNB1 (2)
- GRIN2B (2)
H
- Hereditary ataxia (4)
- Hereditary neuropathy (3)
- Hereditary spastic paraplegia (5)
- HEXB (1)
- Hexosaminidase deficiency (1)
- HPLC-MS/MS (1)
- HSP (2)
- Hunter Disease (1)
- Hyperechogenicity (1)
- Hypertrophic cardiomyopathy (4)
- Hypoglycemia (1)
- Hypopigmentation (1)
- Hypotonia (4)
I
- Idiopathic (1)
- IDS (1)
- IDUA (1)
- Impaired glucose tolerance (1)
- In vitro enzyme activity (2)
- Intellectual disability (11)
- Intraflagellar transport (1)
- Ion Torrent (2)
- IPSCs (1)
- Iris hypopigmentation (1)
- Ischemic stroke (2)
K
L
- LC/MRM-MS based assay (1)
- Left ventricular hypertrophy (1)
- Legius syndrome (1)
- Leukodystrophy (6)
- Linkage analysis (2)
- Lyso-Gb1 (11)
- Lyso-Gb3 (11)
- Lysosomal Storage Disorders (LSD) (54)
M
- Maple syrup urine disease (MSUD) (1)
- Meta-analytic connectivity modeling (1)
- Methylmalonic acidemia (2)
- Methylmalonic aciduria (2)
- Microcephaly (4)
- Microcoria (1)
- Missense (1)
- Mitochondrial disease (3)
- MLPA (1)
- MMAA gene (2)
- Molecular diagnostics (2)
- Morquio A disease (2)
- Movement disorders (10)
- MPS (2)
- MPS IVA (2)
- MRI (6)
- MTHFR (1)
- Mucopolysaccharidosis (10)
- Multiple sclerosis (1)
- Muscle weakness (3)
- Muscular atrophy syndromes (1)
- Muscular dystrophy (2)
- MUT gene (1)
- Mutant mouse model (2)
- Mutation analysis (3)
- Myoclonus (1)
N
- Nemaline myopathy (1)
- Neurodegeneration (11)
- Neuroendocrine disorders (1)
- Neuroendocrine tumors (2)
- Neurofibromatosis (1)
- Neurofibromatosis 1 (NF1) (1)
- Neurofibromatosis 2 (NF2) (1)
- Neuronal differentiation (1)
- Neuropathy (5)
- Newborn screening (5)
- NGS panel (33)
- Niemann-Pick A/B (5)
- Niemann-Pick disease type C (NPC1) (17)
- Non-invasive prenatal diagnosis (2)
- Novel deletion (1)
- Novel mutation (6)
- NP509 (2)
- NPC1 (2)
- NPC2 (1)
O
P
- Pancreatitic cancer (5)
- Pancreatitis (2)
- Parkinson’s disease (7)
- PCK1 (1)
- PCR (2)
- PEPCK (1)
- Personalised medicine (2)
- Pharmacological chaperone (1)
- Pierson syndrome (1)
- PKC (1)
- Pompe disease (4)
- PORCN gene (2)
- Precision medicine (1)
- Prenatal testing (2)
- Protein degradation (1)
- Protein kinase C (1)
- Protein stability (1)
- PSEN1 (3)
- PSEN2 (3)
- Psychosine (1)
Q
R
S
- Sclerosis (2)
- Sensenbrenner syndrome (1)
- Sensory and autonomic neuropathy (2)
- Short rib thoracic dysplasia (1)
- Skin cancer (2)
- Skin hypopigmentation (1)
- Small fiber neuropathy (2)
- Soft tissue sarcomas (1)
- Somatic mutations (7)
- Spastic paraparesis with dystonia (1)
- Spastic paraplegia (6)
- Spasticity (1)
- SPG35 (1)
- SPG3A (1)
- Spinal muscular atrophy (1)
- Spinocerebellar ataxia (SCA) (4)
- Stem cells (2)
- Stroke in the young (2)
- Stroke registry (1)
- Stroke severity (1)
- Structural analysis (2)
- Substantia nigra (1)
T
V
- Validation (1)
- Velaglucerase alfa (2)
- Vimentin (1)
- Vitamin B12 (1)
- Voxel-based morphometry (VBM) (1)