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Items: 11

1.
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
U Heinisch, J Zlotogora, S Kafert, V Gieselmann
Am J Hum Genet. 1995 Jan; 56(1): 51–57.
PMCID:
PMC1801341
ArticlePDF–1.3M
2.
Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
A L Fluharty, C B Fluharty, W Bohne, K von Figura, V Gieselmann
Am J Hum Genet. 1991 Dec; 49(6): 1340–1350.
PMCID:
PMC1686463
ArticlePDF–2.4M
3.
Two allelic forms of human arylsulfatase A with different numbers of asparagine-linked oligosaccharides.
A Waheed, F Steckel, A Hasilik, K von Figura
Am J Hum Genet. 1983 Mar; 35(2): 228–233.
PMCID:
PMC1685543
ArticlePDF–866K
4.
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
V Gieselmann, A L Fluharty, T Tønnesen, K Von Figura
Am J Hum Genet. 1991 Aug; 49(2): 407–413.
PMCID:
PMC1683316
ArticlePDF–1.0M
5.
Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
R Kondo, N Wakamatsu, H Yoshino, N Fukuhara, T Miyatake, S Tsuji
Am J Hum Genet. 1991 May; 48(5): 971–978.
PMCID:
PMC1683039
ArticlePDF–1.1M
6.
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
J Kreysing, W Bohne, C Bösenberg, S Marchesini, J C Turpin, N Baumann, K von Figura, V Gieselmann
Am J Hum Genet. 1993 Aug; 53(2): 339–346.
PMCID:
PMC1682342
ArticlePDF–1.3M
7.
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22
M B Coulter-Mackie, J Rip, M D Ludman, J Beis, D E C Cole
J Med Genet. 1995 Oct; 32(10): 787–791. doi: 10.1136/jmg.32.10.787
PMCID:
PMC1051701
ArticlePDF–1.4M
8.
Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.
M L Barth, C Ward, A Harris, A Saad, A Fensom
J Med Genet. 1994 Sep; 31(9): 667–671. doi: 10.1136/jmg.31.9.667
PMCID:
PMC1050073
ArticlePDF–886K
9.
Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
K Narahara, Y Takahashi, M Murakami, K Tsuji, Y Yokoyama, R Murakami, S Ninomiya, Y Seino
J Med Genet. 1992 Jun; 29(6): 432–433. doi: 10.1136/jmg.29.6.432
PMCID:
PMC1016000
ArticlePDF–432K
10.
Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B
Chester DeLuca, Judith A. Brown, Thomas B. Shows
Proc Natl Acad Sci U S A. 1979 Apr; 76(4): 1957–1961. doi: 10.1073/pnas.76.4.1957
PMCID:
PMC383512
ArticlePDF–1.2M
11.
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
V Gieselmann, A Polten, J Kreysing, K von Figura
Proc Natl Acad Sci U S A. 1989 Dec; 86(23): 9436–9440. doi: 10.1073/pnas.86.23.9436
PMCID:
PMC298511
ArticlePDF–1.4M

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