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Results of search for 'su:"Leukodystrophy, Metachromatic"', page 17 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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321.
Monozygotic twins with presumed metachromatic leukodystrophy. Activity of arylsulfatase A in serum of patients and family.
[electronic resource]
by
Hashimoto, T
Minato, H
Kuroda, Y
Toshima, K
Ohara, K
Miyao, M
Producer:
19781118
In:
Archives of neurology
vol. 35
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322.
Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle.
[electronic resource]
by
Goebel, H H
Pilz, H
Argyrakis, A
Producer:
19771125
In:
European neurology
vol. 15
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323.
Retinal pigment epithelial degeneration and arylsulfatase A deficiency.
[electronic resource]
by
Zlotogora, J
Schaap, T
Bach, G
Producer:
19810922
In:
American journal of ophthalmology
vol. 92
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324.
Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques.
[electronic resource]
by
Chang, P L
Rosa, N E
Varey, P A
Kihara, H
Kolodny, E H
Davidson, R G
Producer:
19841218
In:
Pediatric research
vol. 18
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325.
Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.
[electronic resource]
by
Whitfield, P D
Sharp, P C
Johnson, D W
Nelson, P
Meikle, P J
Producer:
20010726
In:
Molecular genetics and metabolism
vol. 73
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326.
Reduced brain cholesterol content in arylsulfatase A-deficient mice.
[electronic resource]
by
Lütjohann, Dieter
Harzer, Klaus
Gieselmann, Volkmar
Eckhardt, Matthias
Producer:
20060622
In:
Biochemical and biophysical research communications
vol. 344
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327.
Immune response in leukodystrophies.
[electronic resource]
by
Eichler, Florian
Van Haren, Keith
Producer:
20071120
In:
Pediatric neurology
vol. 37
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328.
Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.
[electronic resource]
by
Onder, Evren
Sinici, Incilay
Müjgan Sönmez, F
Topçu, Meral
Ozkara, H Asuman
Producer:
20090430
In:
Neurological research
vol. 31
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329.
A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.
[electronic resource]
by
Lugowska, Agnieszka
Mierzewska, Hanna
Bekiesińska-Figatowska, Monika
Szczepanik, Elżbieta
Goszczańska-Ciuchta, Alicja
Bednarska-Makaruk, Małgorzata
Producer:
20141024
In:
Journal of the neurological sciences
vol. 338
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330.
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
[electronic resource]
by
Cesani, Martina
Lorioli, Laura
Grossi, Serena
Amico, Giulia
Fumagalli, Francesca
Spiga, Ivana
Filocamo, Mirella
Biffi, Alessandra
Producer:
20161013
In:
Human mutation
vol. 37
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331.
[Ultrastructure of intracellular storage materials in an autopsy case of adult-onset metachromatic leucodystrophy (MLD) (author's transl)].
[electronic resource]
by
Blinzinger, K
Jellinger, K
Producer:
19781018
In:
Archiv fur Psychiatrie und Nervenkrankheiten
vol. 225
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332.
Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation.
[electronic resource]
by
Krivit, W
Shapiro, E
Kennedy, W
Lipton, M
Lockman, L
Smith, S
Summers, C G
Wenger, D A
Tsai, M Y
Ramsay, N K
Producer:
19900126
In:
The New England journal of medicine
vol. 322
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333.
[Ultrastructural and histochemical studies of late infantile metachromatic leukodystrophy].
[electronic resource]
by
Wang, D F
Producer:
19900323
In:
Zhonghua shen jing jing shen ke za zhi = Chinese journal of neurology and psychiatry
vol. 22
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334.
[Rare inborn errors of lysosomal metabolism, implications for pediatric research (author's transl)].
[electronic resource]
by
Wiesmann, N
Herschkowitz, N
Producer:
19760419
In:
Schweizerische Rundschau fur Medizin Praxis = Revue suisse de medecine Praxis
vol. 64
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335.
[Hereditary demyelinating diseases - the leukodystrophies].
[electronic resource]
by
François, J
Producer:
19800616
In:
Journal de genetique humaine
vol. 27
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336.
Low arylsulphatase A activity in a family without metachromatic leukodystrophy.
[electronic resource]
by
Butterworth, J
Broadhead, D M
Keay, A J
Producer:
19781227
In:
Clinical genetics
vol. 14
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337.
[E.E.G. appearance of the ceroid-lipofuscinoses and metachromatic leucodystrophy (author's transl)].
[electronic resource]
by
Dumon-Radermecker, M
Martin, J J
Radermecker, F J
Producer:
19780828
In:
Revue d'electroencephalographie et de neurophysiologie clinique
vol. 8
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338.
Acid mucopolysaccharide (AMPS) abnormality in multiple sulfatase deficiency: chemical compositions of AMPS in urine and liver.
[electronic resource]
by
Eto, Y
Tokoro, T
Handa, T
Herschkowitz, N N
Rennert, O M
Producer:
19820910
In:
Pediatric research
vol. 16
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339.
Biochemical abnormalities of metachromatic leukodystrophy in an adult psychiatric population.
[electronic resource]
by
Mahon-Haft, H
Stone, R K
Johnson, R
Shah, S
Producer:
19811215
In:
The American journal of psychiatry
vol. 138
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340.
Acid hydrolases in serum from patients with lysosomal disorders.
[electronic resource]
by
Hultberg, B
Isaksson, A
Sjöblad, S
Ockerman, P A
Producer:
19800327
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 100
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