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Results of search for 'su:"Leukodystrophy, Metachromatic"', page 19 of 63
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Authors
Bach, G
Baumann, N
Berger, J
Biffi, Alessandra
Conzelmann, E
Eto, Y
Fluharty, A L
Gieselmann, V
Gieselmann, Volkmar
Goebel, H H
Harzer, K
Kihara, H
Krivit, W
Matzner, Ulrich
Moser, H W
Naldini, Luigi
Turpin, J C
Wenger, D A
Zlotogora, J
von Figura, K
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Topics
Adolescent
Adult
Animals
Brain
Cerebroside-Sulfatase
Child
Child, Preschool
Female
Humans
Infant
Leukodystrophy, Metachromatic
Male
Sulfatases
Sulfoglycosphingolipids
deficiency
diagnosis
enzymology
genetics
metabolism
pathology
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361.
Genetics of metachromatic leukodystrophy.
[electronic resource]
by
Gieselmann, V
Kreysing, J
von Figura, K
Producer:
19960212
In:
Gene therapy
vol. 1 Suppl 1
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362.
Adult-onset MLD: a gene mutation with isolated polyneuropathy.
[electronic resource]
by
Felice, K J
Gomez Lira, M
Natowicz, M
Grunnet, M L
Tsongalis, G J
Sima, A A
Kaplan, R F
Producer:
20001121
In:
Neurology
vol. 55
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363.
Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?
[electronic resource]
by
Wider, C
Van Gerpen, J A
DeArmond, S
Shuster, E A
Dickson, D W
Wszolek, Z K
Producer:
20090714
In:
Neurology
vol. 72
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364.
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
[electronic resource]
by
Siri, Laura
Rossi, Andrea
Lanza, Federica
Mazzotti, Raffaella
Costa, Anna
Stroppiano, Marina
Gaiero, Alberto
Cohen, Amnon
Biancheri, Roberta
Filocamo, Mirella
Producer:
20150528
In:
Neurogenetics
vol. 15
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365.
Deficiency of steroid beta-glucosidase in Gaucher disease.
[electronic resource]
by
Kanfer, J N
Raghavan, S S
Mumford, R A
Labow, R S
Williamson, D G
Layne, D S
Producer:
19760209
In:
Biochemical and biophysical research communications
vol. 67
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366.
MR findings in leukodystrophy.
[electronic resource]
by
Demaerel, P
Faubert, C
Wilms, G
Casaer, P
Piepgras, U
Baert, A L
Producer:
19911120
In:
Neuroradiology
vol. 33
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367.
[Arylsulfatase A deficiency-metachromatic leukodystrophy].
[electronic resource]
by
Eto, Y
Producer:
19900220
In:
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme
vol. 33
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368.
A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
[electronic resource]
by
Wrobe, D
Henseler, M
Huettler, S
Pascual Pascual, S I
Chabas, A
Sandhoff, K
Producer:
20000302
In:
Journal of inherited metabolic disease
vol. 23
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369.
Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies.
[electronic resource]
by
Berná, L
Asfaw, B
Conzelmann, E
Cerný, B
Ledvinová, J
Producer:
19990615
In:
Analytical biochemistry
vol. 269
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370.
Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation.
[electronic resource]
by
Kapaun, P
Dittmann, R W
Granitzny, B
Eickhoff, W
Wulbrand, H
Neumaier-Probst, E
Zander, A
Kohlschüetter, A
Producer:
19990629
In:
Journal of child neurology
vol. 14
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371.
Involvement of the gallbladder in childhood metachromatic leukodystrophy: ultrasonographic findings.
[electronic resource]
by
Kim, T S
Kim, I O
Kim, W S
Choi, Y S
Yeon, K M
Hwang, Y S
Producer:
19970226
In:
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
vol. 15
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372.
A new analytical bench assay for the determination of arylsulfatase a activity toward galactosyl-3-sulfate ceramide: implication for metachromatic leukodystrophy diagnosis.
[electronic resource]
by
Morena, Francesco
di Girolamo, Ilaria
Emiliani, Carla
Gritti, Angela
Biffi, Alessandra
Martino, Sabata
Producer:
20140714
In:
Analytical chemistry
vol. 86
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373.
Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry.
[electronic resource]
by
Barcenas, Mariana
Suhr, Teryn R
Scott, C Ronald
Turecek, Frantisek
Gelb, Michael H
Producer:
20150115
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 433
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374.
Lysosomal storage diseases.
[electronic resource]
by
Platt, Frances M
d'Azzo, Alessandra
Davidson, Beverly L
Neufeld, Elizabeth F
Tifft, Cynthia J
Producer:
20190924
In:
Nature reviews. Disease primers
vol. 4
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375.
A case of metachromatic leukodystrophy with a chronic course (clinical-morphological-biochemical study).
[electronic resource]
by
Markiewicz, D
Adamczewska-Goncerzewicz, Z
Zelman, I B
Dymecki, J
Bieniasz, J
Producer:
19790313
In:
Neuropatologia polska
vol. 16
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376.
[Familial sulfatidosis associated with systemic ponto-cerebellar atrophy: clinical, biochemical, genetic and anatomo-pathological study].
[electronic resource]
by
Federico, A
Turchiaro, G
Carlomagno, S
Valerio, P
Stefani, M
Del Vacchio, M
Balbi, R
Guazzi, G C
Producer:
19750115
In:
Acta neurologica
vol. 29
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377.
[Activity of aryl sulfatase A enzyme in patients with schizophrenic disorders].
[electronic resource]
by
Alvarez Leal, M
Castillo Solís, T
Pérez Zuno, J A
Vargas Ramos, I
Sepúlveda García, R
Zúñiga Charles, M A
Producer:
19960321
In:
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
vol. 47
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378.
Neurophysiology and MRI in late-infantile metachromatic leukodystrophy.
[electronic resource]
by
Zafeiriou, D I
Kontopoulos, E E
Michelakakis, H M
Anastasiou, A L
Gombakis, N P
Producer:
20000104
In:
Pediatric neurology
vol. 21
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379.
Adeno-Associated Virus and Hematopoietic Stem Cells: The Potential of Adeno-Associated Virus Hematopoietic Stem Cells in Genetic Medicines.
[electronic resource]
by
Chatterjee, Saswati
Sivanandam, Venkatesh
Wong, Kamehameha Kai-Min
Producer:
20210823
In:
Human gene therapy
vol. 31
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380.
Adult metachromatic leukodystrophy. Value of computed tomographic scanning and magnetic resonance imaging of the brain.
[electronic resource]
by
Waltz, G
Harik, S I
Kaufman, B
Producer:
19870302
In:
Archives of neurology
vol. 44
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