Skip to main content
مکتبة رقمیه للعلوم الطبيه
Your cart is empty.
Cart
Lists
Your lists
Log in to create your own lists
Log in to your account
Your cookies
Search history
Search the catalog by:
Library catalog
Title
Author
Subject
ISBN
ISSN
Series
Call number
Search the catalog by keyword
Advanced search
Authority search
Tag cloud
Library
Log in to your account
Home
Advanced search
Results of search for 'su:"Leukodystrophy, Metachromatic"', page 53 of 63
Refine your search
Availability
Limit to records with available items
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
Show more
Show less
Topics
Adolescent
Adult
Animals
Brain
Cerebroside-Sulfatase
Child
Child, Preschool
Female
Humans
Infant
Leukodystrophy, Metachromatic
Male
Sulfatases
Sulfoglycosphingolipids
deficiency
diagnosis
enzymology
genetics
metabolism
pathology
Show more
Show less
Languages
Chinese
Czech
Danish
Dutch
English
Finnish
French
German
Croatian
Hungarian
Italian
Japanese
Norwegian
Polish
Portuguese
Romanian
Russian
Slovak
Spanish
Ukrainian
Show more
Show less
Your search returned 1243 results.
Sort
First
Previous
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
Next
Last
Sort by:
Relevance
Popularity (most to least)
Popularity (least to most)
Author (A-Z)
Author (Z-A)
Call number (0-9 to A-Z)
Call number (Z-A to 9-0)
Publication/Copyright date: Newest to oldest
Publication/Copyright date: Oldest to newest
Acquisition date: Newest to oldest
Acquisition date: Oldest to newest
Title (A-Z)
Title (Z-A)
Unhighlight
Highlight
Select all
Clear all
Select titles to:
Add to cart
Add to list
New list
Place hold
Results
1041.
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
[electronic resource]
by
Poeppel, Peter
Habetha, Matthias
Marcão, Ana
Büssow, Heinrich
Berna, Linda
Gieselmann, Volkmar
Producer:
20050414
In:
The FEBS journal
vol. 272
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1042.
Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families.
[electronic resource]
by
Ropers, H H
Burmeister, P
Petrykowski, W v
Schindera, F
Producer:
19751108
In:
American journal of human genetics
vol. 27
Availability:
No items available.
Save to lists
Add to cart
(remove)
1043.
Molecular genetics of metachromatic leukodystrophy.
[electronic resource]
by
Gieselmann, V
Polten, A
Kreysing, J
Kappler, J
Fluharty, A
von Figura, K
Producer:
19920709
In:
Developmental neuroscience
vol. 13
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1044.
[Phenotypes in heteroglycanoses and sphingolipidoses (author's transl)].
[electronic resource]
by
Gehler, J
Producer:
19820313
In:
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde
vol. 129
Availability:
No items available.
Save to lists
Add to cart
(remove)
1045.
A correlative synopsis of the leukodystrophies.
[electronic resource]
by
Morell, P
Producer:
19860807
In:
Neuropediatrics
vol. 15 Suppl
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1046.
Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse.
[electronic resource]
by
Coenen, R
Gieselmann, V
Lüllmann-Rauch, R
Producer:
20011213
In:
Acta neuropathologica
vol. 101
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1047.
Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India.
[electronic resource]
by
Bindu, P S
Mahadevan, A
Taly, A B
Christopher, R
Gayathri, N
Shankar, S K
Producer:
20051213
In:
Journal of neurology, neurosurgery, and psychiatry
vol. 76
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1048.
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
[electronic resource]
by
Berná, Linda
Gieselmann, Volkmar
Poupetová, Helena
Hrebícek, Martin
Elleder, Milan
Ledvinová, Jana
Producer:
20050318
In:
American journal of medical genetics. Part A
vol. 129A
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1049.
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
[electronic resource]
by
Hettiarachchi, D
Dissanayake, V H W
Producer:
20200330
In:
BMC research notes
vol. 12
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1050.
Demyelinating hereditary neuropathies in children: a morphometric and ultrastructural study.
[electronic resource]
by
Guzzetta, F
Rodríguez, J
Deodato, M
Guzzetta, A
Ferrière, G
Producer:
19950623
In:
Histology and histopathology
vol. 10
Availability:
No items available.
Save to lists
Add to cart
(remove)
1051.
Retroviral gene transfer and sustained expression of human arylsulfatase A.
[electronic resource]
by
Learish, R
Ohashi, T
Robbins, P A
Bahnson, A
Boggs, S S
Patrene, K
Schwartz, B E
Gieselmann, V
Barranger, J A
Producer:
19961024
In:
Gene therapy
vol. 3
Availability:
No items available.
Save to lists
Add to cart
(remove)
1052.
Studies in metachromatic leukodystrophy XI. Therapeutic considerations, 1972.
[electronic resource]
by
Austin, J H
Producer:
19750227
In:
Birth defects original article series
vol. 9
Availability:
No items available.
Save to lists
Add to cart
(remove)
1053.
Biochemical approaches to the nosology of nervous system defects, III.
[electronic resource]
by
Menkes, J H
Producer:
19750621
In:
Birth defects original article series
vol. 7
Availability:
No items available.
Save to lists
Add to cart
(remove)
1054.
[Ultrastructural findings in 9 fetuses following prenatal diagnosis of neurolipidoses].
[electronic resource]
by
Suchlandt, G
Schlote, W
Harzer, K
Producer:
19830617
In:
Archiv fur Psychiatrie und Nervenkrankheiten
vol. 232
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1055.
Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases.
[electronic resource]
by
Inui, K
Wenger, D A
Producer:
19831217
In:
The Journal of clinical investigation
vol. 72
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1056.
Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide.
[electronic resource]
by
Sugita, M
Dulaney, J T
Moser, H W
Producer:
19740715
In:
Journal of lipid research
vol. 15
Availability:
No items available.
Save to lists
Add to cart
(remove)
1057.
Cerebral degenerative disorders of infancy and childhood.
[electronic resource]
by
Noronha, M J
Producer:
19740828
In:
Developmental medicine and child neurology
vol. 16
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1058.
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
[electronic resource]
by
Goizet, Cyril
Coupry, Isabelle
Rooryck, Caroline
Taine, Laurence
Dormoy, Virginie
Lacombe, Didier
Arveiler, Benoît
Producer:
20041106
In:
European journal of human genetics : EJHG
vol. 12
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1059.
Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.
[electronic resource]
by
Kumperscak, Hojka G
Plesnicar, Blanka K
Zalar, Bojan
Gradisnik, Peter
Seruga, Tomaz
Paschke, Eduard
Producer:
20070926
In:
Psychiatric genetics
vol. 17
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1060.
Prenatal metachromatic leukodystrophy.
[electronic resource]
by
Wiesmann, U N
Meier, C
Spycher, M A
Schmid, W
Bischoff, A
Gautier, E
Herschlowitz, N
Producer:
19751205
In:
Helvetica paediatrica acta
vol. 30
Availability:
No items available.
Save to lists
Add to cart
(remove)
First
Previous
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
Next
Last