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 (8)
• 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 (23)
• 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 (5)
• 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

• Krabbe disease (4)

L

• LC/MRM-MS based assay (1)
• Left ventricular hypertrophy (1)
• Legius syndrome (1)
• Leukodystrophy (6)
• Linkage analysis (2)
• Lyso-Gb1 (11)
• Lyso-Gb3 (12)
• Lysosomal Storage Disorders (LSD) (55)

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 (11)
• 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 (14)
• 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

• Obesity (1)
• Oculocutaneous (1)
• Oculocutaneous albinism (2)
• Olfactory system (2)
• Ovarian cancer (4)

P

• Pancreatitic cancer (5)
• Pancreatitis (2)
• Parkinson’s disease (10)
• 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

• Quadrupedal gait (1)

R

• Renal failure (1)
• RNA extraction (1)

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

• TOR1A (1)
• TorsinA (1)
• Transcranial sonography (1)
• Tumor (2)

V

• Validation (1)
• Velaglucerase alfa (2)
• Vimentin (1)
• Vitamin B12 (1)
• Voxel-based morphometry (VBM) (1)

W

• White matter lesions (1)

X

• X-linked (25)
• XALD (1)

• α-galactosidase A (4)
• β -galactocerebrosidase (1)