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Results of search for 'su:"Leukodystrophy, Metachromatic"', page 43 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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841.
[A psychomotor delay].
[electronic resource]
by
Mounach, J
Abilkassem, R
Hommadi, A
Bounasse, M
Hsaini, Y
Agadr, A
Producer:
20100430
In:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
vol. 17
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842.
Broadening the indications for hematopoietic stem cell genetic therapies.
[electronic resource]
by
Williams, David A
Producer:
20140408
In:
Cell stem cell
vol. 13
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843.
Intrathecal baclofen in metachromatic leukodystrophy.
[electronic resource]
by
van der Veldt, Nikki
van Rappard, Diane F
van de Pol, Laura A
van der Knaap, Marjo S
van Ouwerkerk, Willem J R
Becher, Jules G
Wolf, Nicole I
Buizer, Annemieke I
Producer:
20190325
In:
Developmental medicine and child neurology
vol. 61
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844.
Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency.
[electronic resource]
by
Wenger, D A
DeGala, G
Williams, C
Taylor, H A
Stevenson, R E
Pruitt, J R
Miller, J
Garen, P D
Balentine, J D
Producer:
19890914
In:
American journal of medical genetics
vol. 33
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845.
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
[electronic resource]
by
Tempesta, M C
Levade, T
Salvayre, R
Producer:
19920625
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 202
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846.
Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy.
[electronic resource]
by
Thomas, P K
King, R H
Kocen, R S
Brett, E M
Producer:
19771125
In:
Acta neuropathologica
vol. 39
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847.
P-Nitrocatechol sulfate for arylsulfatase assay: detection of metachromatic leukodystrophy variants.
[electronic resource]
by
Dubois, G
Turpin, J
Baumann, N
Producer:
19760823
In:
Advances in experimental medicine and biology
vol. 68
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848.
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.
[electronic resource]
by
von Figura, K
Steckel, F
Hasilik, A
Producer:
19831028
In:
Proceedings of the National Academy of Sciences of the United States of America
vol. 80
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849.
Metachromatic leukodystrophy: clinical and enzymatic parameters.
[electronic resource]
by
McKhann, G M
Producer:
19860807
In:
Neuropediatrics
vol. 15 Suppl
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850.
Seizures as a presenting feature of late onset metachromatic leukodystrophy.
[electronic resource]
by
Bostantjopoulou, S
Katsarou, Z
Michelakaki, H
Kazis, A
Producer:
20010103
In:
Acta neurologica Scandinavica
vol. 102
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851.
Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.
[electronic resource]
by
Tylki-Szymańska, Anna
Ługowska, Agnieszka
Chmielik, Jolanta
Kotowicz, Jerzy
Jakubowska-Winecka, Anna
Zobel, Marta
Berger, Johannes
Molzer, Brunhilde
Producer:
20021025
In:
American journal of medical genetics
vol. 110
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852.
Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation.
[electronic resource]
by
Pridjian, G
Humbert, J
Willis, J
Shapira, E
Producer:
19941213
In:
The Journal of pediatrics
vol. 125
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853.
Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.
[electronic resource]
by
Fernández-Vega, Ivan
Pérez de Heredia-Goñi, Katti
Santos-Juanes, Jorge
Goñi Imizcoz, Miguel
Zaldumbide, Laura
Zarranz, Juan Jose
Ferrer, Isidro
Producer:
20180226
In:
Histopathology
vol. 68
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854.
[EEG changes in the course of progressive cerebral disorders in children (author's transl)].
[electronic resource]
by
Eggers, C
Lederer, H
Scheffner, D
Producer:
19770331
In:
Monatsschrift fur Kinderheilkunde
vol. 125
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855.
Ultrastructural pathology of the peripheral nervous system.
[electronic resource]
by
Bischoff, A
Producer:
19740416
In:
Zeitschrift fur Neurologie
vol. 205
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856.
Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
[electronic resource]
by
Berger, J
Löschl, B
Bernheimer, H
Lugowska, A
Tylki-Szymanska, A
Gieselmann, V
Molzer, B
Producer:
19970606
In:
American journal of medical genetics
vol. 69
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857.
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
[electronic resource]
by
Regis, S
Filocamo, M
Stroppiano, M
Corsolini, F
Caroli, F
Gatti, R
Producer:
19980303
In:
Human genetics
vol. 102
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858.
Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers.
[electronic resource]
by
Ben-Yoseph, Y
Mitchell, D A
Producer:
19940923
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 226
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859.
The burden of inherited leukodystrophies in children.
[electronic resource]
by
Bonkowsky, J L
Nelson, C
Kingston, J L
Filloux, F M
Mundorff, M B
Srivastava, R
Producer:
20101018
In:
Neurology
vol. 75
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860.
Sulfatide storage in visceral organs of arylsulfatase A-deficient mice.
[electronic resource]
by
Schott, I
Hartmann, D
Gieselmann, V
Lüllmann-Rauch, R
Producer:
20010823
In:
Virchows Archiv : an international journal of pathology
vol. 439
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