Phenotypic variation between siblings with Metachromatic Leukodystrophy

[1] Gieselmann V(2010)Metachromatic leukodystrophy--an update Neuropediatrics. 41 1-6

[2] Krägeloh-Mann I(2011)The natural course of gross motor deterioration in metachromatic leukodystrophy Dev Med Child Neurol 53 850-855

[3] Kehrer C(2005)Mutations c.459+1G>a and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries Mol Genet Metab 86 353-359

[4] Blumenstock G(1991)Molecular basis of different forms of metachromatic leukodystrophy N Engl J Med 324 18-22

[5] Gieselmann V(1997)Occurrence, distribution, and phenotype of arylsulfatase a mutations in patients with metachromatic leukodystrophy Am J Med Genet 69 335-340

[6] Krageloh-Mann I(2017)Enzymatic characterization of novel arylsulfatase a variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells Hum Mutat 38 1511-1520

[7] German L(2016)Mutation update of ARSA and PSAP genes causing metachromatic Leukodystrophy Hum Mutat 37 16-27

[8] Lugowska A(2017)Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder Genet Mol Biol 40 759-762

[9] Amaral O(2017)Metachromatic Leukodystrophy (MLD): a Pakistani family with novel ARSA gene mutation J Mol Neurosci 63 84-90

[10] Berger J(2016)Late-onset metachromatic Leukodystrophy with early onset dementia associated with a novel missense mutation in the arylsulfatase a gene J Alzheimers Dis 51 683-687

[1] Gieselmann V(2010)Metachromatic leukodystrophy--an update Neuropediatrics. 41 1-6

[2] Krägeloh-Mann I(2011)The natural course of gross motor deterioration in metachromatic leukodystrophy Dev Med Child Neurol 53 850-855

[3] Kehrer C(2005)Mutations c.459+1G>a and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries Mol Genet Metab 86 353-359

[4] Blumenstock G(1991)Molecular basis of different forms of metachromatic leukodystrophy N Engl J Med 324 18-22

[5] Gieselmann V(1997)Occurrence, distribution, and phenotype of arylsulfatase a mutations in patients with metachromatic leukodystrophy Am J Med Genet 69 335-340

[6] Krageloh-Mann I(2017)Enzymatic characterization of novel arylsulfatase a variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells Hum Mutat 38 1511-1520

[7] German L(2016)Mutation update of ARSA and PSAP genes causing metachromatic Leukodystrophy Hum Mutat 37 16-27

[8] Lugowska A(2017)Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder Genet Mol Biol 40 759-762

[9] Amaral O(2017)Metachromatic Leukodystrophy (MLD): a Pakistani family with novel ARSA gene mutation J Mol Neurosci 63 84-90

[10] Berger J(2016)Late-onset metachromatic Leukodystrophy with early onset dementia associated with a novel missense mutation in the arylsulfatase a gene J Alzheimers Dis 51 683-687