46 results

... OMIM 256540 ) + ≤6 mos Seizures Corneal clouding GALC Krabbe disease – ≤6 mos Seizures Leukodystrophy, peripheral neuropathy, irritability GBA1 ( ...

... Galactosialidosis (OMIM 256540 ) AR Lysosomal protective protein GALC Krabbe disease AR Galactocerebrosidase GBA1 Gaucher disease AR Lysosomal acid ...

... PS256730 ) AR AD 2 Neurodegeneration Retinal degeneration GALC Krabbe disease AR Pyramidal signs Peripheral neuropathy MRI changes predominantly ...

... regression Leukodystrophy Spasticity Optic atrophy ↑ urinary sulfatide excretion Krabbe disease GALC AR Neurologic regression Leukodystrophy Spasticity Optic atrophy ...

... in children with a positive newborn screen for Krabbe disease: A pilot study of a phone-based interview ...

... syndrome AR Neurodegeneration Peripheral neuropathy Progressive microcephaly GALC Krabbe disease AR Pyramidal signs, developing into para- or tetraparesis ...

... with significant CNS involvement such as metachromatic leukodystrophy , Krabbe disease , Pelizaeus-Merzbacher disease , and Lowe syndrome . Other Hereditary ...

... from SPG7 Adrenomyeloneuropathy and other leukodystrophies (e.g., Krabbe disease , arylsulfatase A deficiency [metachromatic leukodystrophy]) ABCD1 GALC ARSA ...

... period of apparently normal development GALC Infantile-onset Krabbe disease AR Normal head Peripheral neuropathy GCDH Infantile-onset ...

... degeneration Arylsulfatase A deficiency (metachromatic leukodystrophy) ARSA AR Krabbe disease GALC AR Canavan disease ASPA AR Alexander disease ...