Results 1 -
6
of
6
for
Infantile neuroaxonal dystrophy
Did you mean Infantile "neuro axonal" dystrophy?
- ... Seitelberger's disease Genetic Testing Registry: Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... gene have been identified in people with infantile neuroaxonal dystrophy, a progressive neurological disorder that causes intellectual disability ... lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both ...
- ... NAGA deficiency type II NAGA deficiency type III Neuroaxonal dystrophy, Schindler type Neuronal axonal dystrophy, Schindler type Schindler ... N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? Eur J Hum Genet. 2001 Feb;9(2): ...
- ... in certain other neurological disorders such as infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration. All these conditions ...
- ... OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 OSTEOPETROSIS, AUTOSOMAL RECESSIVE ...
- ... Desnick RJ, Wang AM. Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. J Inherit ...