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Canavan Disease
Canavan disease
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Leukodystrophies
Alexander disease
Adrenoleuk- odystrophy
Leukodystrophy, globoid cell
Pelizaeus-- merzbacher disease
Metachromatic leukodystrophy
Cerebrohepatorenal syndrome
Lysosomal storage diseases
(39)
Batten disease
Fabry disease
Gaucher disease
Mucolipidosis type IV
Multiple sulfatase deficiency
Multiple sulfatase deficiency
Niemann Pick disease
Tay Sachs disease
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Cholesteryl ester storage disease
Cystinosis
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Leukodystrophy, globoid cell
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucopolysa- ccharidosis
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Wolman disease
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Ashkenazi Jews topics
(8)
Fanconi anemia
Bloom syndrome
Familial dysautonomia
Torsion dystonia
Tay Sachs disease
Tay Sachs disease
Gaucher disease
Mucolipidosis type IV
Niemann Pick disease
more...
Autosomal recessive disorders
(15)
Very long-chain acyl coenzyme A dehydrogenase deficiency
Cerebrotendinous xanthomatosis
Spinal muscular atrophy type 1
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Tay Sachs disease
Tay Sachs disease
Gaucher disease
Fanconi anemia
Mucolipidosis type IV
Bloom syndrome
Familial dysautonomia
Leukodystrophy, globoid cell
Metachromatic leukodystrophy
Batten disease
Niemann Pick disease
Multiple sulfatase deficiency
more...
Genetic disorders
(33)
Hyperostosis, cortical, congenital
Hereditary sensory and autonomic neuropathies
Charcot-Marie Tooth Disease
Genetic diseases
Spondyloep- imetaphyseal dysplasia, Strudwick type
Spondyloep- imetaphyseal dysplasia, Strudwick type
Galactosemias
Coffin-lowry syndrome
5p deletion syndrome
Aicardi syndrome
Klinefelter syndrome
X-linked sideroblastic anemia
Andersen-Tawil syndrome
Tay Sachs disease
Gaucher disease
Alexander disease
Fanconi anemia
Leukodystrophies
Mucolipidosis type IV
Bloom syndrome
Adrenoleuk- odystrophy
Very long-chain acyl coenzyme A dehydrogenase deficiency
Leukodystrophy, globoid cell
Cerebrotendinous xanthomatosis
Pelizaeus-- merzbacher disease
Metachromatic leukodystrophy
Spinal muscular atrophy type 1
Cerebrohepatorenal syndrome
Batten disease
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Niemann Pick disease
Fabry disease
Multiple sulfatase deficiency
Torsion dystonia
more...
Diseases and disorders
(71)
Canavan-van bogaert-bertrand disease
Vocal tic disorder
Chemical pneumonitis
Cancer of the kidney
Leukodystrophy
Leukodystrophy
Cancer of the skin
Hypotonia
Postpoliomyelitis syndrome
Progressive sclerosing poliodystrophy
Glossopharyngeal nerve diseases
Neurological disorders
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Chromosome 5p- syndrome
Cystathionine beta-synthase deficiency disease
Enterocolitis, pseudomembranous
Fetofetal transfusion
Histiocytosis non-langerhans-cell
Lupus erythematosus, cutaneous
Physiologic nystagmus
Polyendocr- inopathies, autoimmune
Encephalitis, arbovirus
Olfaction disorders
Congenital arthromyodysplasia
Alzheimer disease type 2
Intervertebral disk displacement
Phytanic acid storage disease
Coccidioidomycosis
Rosenthal syndrome
Megalocephaly
Congenital facial diplegia
Brachial plexus neuropathies
Optic neuropathy, ischemic
Chronic Progressive External Ophthalmoplegia
Temporal arteritis
Chronic lobular hepatitis
Cerebral gigantism
Crow-Fukase syndrome
Hypomyelination
Menkes syndrome
Macrocephaly
Craniofrontonasal dysplasia
Multiple system atrophy
Swallowing difficulties
Tay Sachs disease
Gaucher disease
Alexander disease
Fanconi anemia
Mucolipidosis type IV
Bloom syndrome
Familial dysautonomia
Hyperostosis, cortical, congenital
Hereditary sensory and autonomic neuropathies
Leukodystrophy, globoid cell
Cerebrotendinous xanthomatosis
Pelizaeus-- merzbacher disease
Charcot-Marie Tooth Disease
Metachromatic leukodystrophy
Spondyloep- imetaphyseal dysplasia, Strudwick type
Spinal muscular atrophy type 1
Cerebrohepatorenal syndrome
Batten disease
Galactosemias
Niemann Pick disease
Coffin-lowry syndrome
5p deletion syndrome
Fabry disease
Klinefelter syndrome
X-linked sideroblastic anemia
Multiple sulfatase deficiency
more...
Motor neuron disease
(11)
Hirayama syndrome
ALS Association
ALS Society of Canada
Amyotrophic lateral sclerosis
Motor neurone disease
Motor neurone disease
People with motor neuron disease
Postpoliomyelitis syndrome
Primary lateral sclerosis
Spinal muscular atrophy
Spinal muscular atrophy type 1
Split hand syndrome
more...
Symptoms
Abnormal muscle tone
Reflux
Seizure
Decreased muscle tone
Hypotonia
Swallowing difficulties
Signs and tests
CSF chemistry
Head CT
Head MRI scan
Joint stiffness
Urine chemistry
See also
(20)
Cerebellar herniation
Cancer of the bile ducts
Aspartoacylase
Chlamydia infection
N-acetylaspartic acid
N-acetylaspartic acid
Myelin sheath
Nervous system
Vasospasm, intracranial
Myoclonic Encephalopathy of infants
Paola Leone
Lipoprotein lipase deficiency, familial
Aspa
Cryptogenic fibrosing alveolitis
Aspartic acid
Canavan
Central nervous system
Dominance (genetics)
Enzyme
Genetic counseling
The Myelin Project
more...
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