Detalhe da pesquisa
1.
Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity.
Am J Med Genet
; 44(4): 523-6, 1992 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-1359786
2.
Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
Am J Med Genet
; 69(3): 335-40, 1997 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-9096767
3.
Adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical study.
J Neurol
; 235(1): 1-9, 1987 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-3430177
4.
Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele.
Clin Biochem
; 30(4): 325-31, 1997 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-9209791
5.
Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD). "Classical" ALD, atypical ALD (female patient) and adrenomyeloneuropathy.
J Neurol Sci
; 51(2): 301-10, 1981 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-7276981
6.
Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay.
Clin Chim Acta
; 73(1): 163-9, 1976 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-826357
7.
Di-, mono- and nonphytanyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Refsum's disease.
Clin Chim Acta
; 91(2): 133-40, 1979 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-83207
8.
Detection of adrenoleukodystrophy by increased C26:0 fatty acid levels in leukocytes.
Clin Chim Acta
; 125(3): 299-305, 1982 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-7172439
9.
Very long chain fatty acids in genetic peroxisomal disease fibroblasts: differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants.
Clin Chim Acta
; 161(1): 81-90, 1986 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-3815856
10.
[Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers]. / Peroxisomale neurologische Erkrankungen und M. Refsum: Uberlangkettige Fettsäuren und Phytansäure als diagnostische Marker.
Wien Klin Wochenschr
; 104(21): 665-70, 1992.
Artigo
em Alemão
| MEDLINE | ID: mdl-1282286
11.
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. / Zellweger-Syndrom, neonatale Adrenoleukodystrophie oder infantile Refsumsche Erkrankung bei einem Fall mit generalisiertem Peroxisomendefekt?
Wien Klin Wochenschr
; 105(11): 320-2, 1993.
Artigo
em Alemão
| MEDLINE | ID: mdl-7687405
12.
[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]. / Mukopolysaccharidose V, Morbus ullrich-Scheie.
Wien Klin Wochenschr
; 90(23): 839-44, 1978 Dec 08.
Artigo
em Alemão
| MEDLINE | ID: mdl-154210
13.
[Adrenoleukodystrophy]. / Adrenoleukodystrophia.
Orv Hetil
; 138(14): 867-71, 1997 Apr 06.
Artigo
em Húngaro
| MEDLINE | ID: mdl-9162896
14.
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.
Hum Mutat
; 16(6): 534, 2000 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11102997
15.
Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
Clin Genet
; 68(1): 48-54, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15952986
16.
Diagnosis of peroxisomal disorders with neurological involvement.
Padiatr Padol
; 28(1): 43-8, 1993.
Artigo
em Inglês
| MEDLINE | ID: mdl-8446428
17.
[Lipid storage diseases (lipidoses): genetic, biochemical and clinico-chemical aspects]. / Lipidspeicherkrankheiten (Lipidosen): Genetische, biochemische und klinisch-chemische Aspekte.
Klin Padiatr
; 198(2): 84-8, 1986.
Artigo
em Alemão
| MEDLINE | ID: mdl-3702277
18.
Fatty acid patterns in brain, fibroblast, leukocyte and body fluid lipids in adrenoleukodystrophy.
Acta Neuropathol Suppl
; 7: 211-4, 1981.
Artigo
em Inglês
| MEDLINE | ID: mdl-6939237
19.
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
Biochem Biophys Res Commun
; 205(3): 1638-43, 1994 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-7811247
20.
Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations.
Hum Genet
; 92(4): 421-3, 1993 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-7901143