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Results of search for 'au:"Mancini, G M"', page 1 of 3
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Authors
Anselm, I
Arts, W F M
Aula, P
Beerens, C E
Betsalel, O T
Biancheri, R
Brunner, H G
Galjaard, H
Halley, D J J
Havelaar, A C
Jakobs, C
Kleijer, W J
Lequin, M H
Mancini, G M
Mancini, G M S
Salomons, G S
Schot, R
Verheijen, F W
de Coo, I F M
van Diggelen, O P
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Adult
Animals
Biological Transport
Brain
Child
Child, Preschool
Female
Humans
Infant
Intracellular Membranes
Liver
Lysosomes
Magnetic Resonance Imaging
Male
Mutation
Sialic Acids
diagnosis
genetics
metabolism
pathology
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Dutch
English
g d
Italian
Your search returned 52 results.
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1.
Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.
[electronic resource]
by
Mancini, G M
Verheijen, F W
Galjaard, H
Producer:
19860917
In:
Human genetics
vol. 73
Online resources:
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2.
Lysosomal transport disorders.
[electronic resource]
by
Mancini, G M
Havelaar, A C
Verheijen, F W
Producer:
20001109
In:
Journal of inherited metabolic disease
vol. 23
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3.
Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses.
[electronic resource]
by
Mancini, G M
Beerens, C E
Verheijen, F W
Producer:
19900830
In:
The Journal of biological chemistry
vol. 265
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4.
[Effect of tryptophan on the somatotropic hormone during sleep in schizophrenics].
[electronic resource]
by
Murri, L
Cerone, G
Feriozzi, F
Mancini, G M
Nurzia, A
Producer:
19750122
In:
Bollettino della Societa italiana di biologia sperimentale
vol. 49
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5.
Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.
[electronic resource]
by
Mancini, G M
Beerens, C E
Galjaard, H
Verheijen, F W
Producer:
19920818
In:
Proceedings of the National Academy of Sciences of the United States of America
vol. 89
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6.
Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides.
[electronic resource]
by
Mancini, G M
de Jonge, H R
Galjaard, H
Verheijen, F W
Producer:
19891012
In:
The Journal of biological chemistry
vol. 264
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7.
First-trimester diagnosis of maple syrup urine disease on intact chorionic villi.
[electronic resource]
by
Kleijer, W J
Horsman, D
Mancini, G M
Fois, A
Boue, J
Producer:
19860107
In:
The New England journal of medicine
vol. 313
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8.
Sudden infant death and lysinuric protein intolerance.
[electronic resource]
by
de Klerk, J B
Duran, M
Huijmans, J G
Mancini, G M
Producer:
19970114
In:
European journal of pediatrics
vol. 155
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9.
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
[electronic resource]
by
Mancini, G M
Beerens, C E
Aula, P P
Verheijen, F W
Producer:
19910507
In:
The Journal of clinical investigation
vol. 87
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10.
Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.
[electronic resource]
by
Havelaar, A C
Beerens, C E
Mancini, G M
Verheijen, F W
Producer:
19990507
In:
FEBS letters
vol. 446
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11.
Sialic acid storage disorders: observations on clinical and biochemical variation.
[electronic resource]
by
Mancini, G M
Verheijen, F W
Beerens, C E
Renlund, M
Aula, P
Producer:
19920709
In:
Developmental neuroscience
vol. 13
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12.
Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.
[electronic resource]
by
Mancini, G M
Hoogeveen, A T
Galjaard, H
Mansson, J E
Svennerholm, L
Producer:
19860709
In:
Human genetics
vol. 73
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13.
Infantile sialic acid storage disease: biochemical studies.
[electronic resource]
by
Berra, B
Gornati, R
Rapelli, S
Gatti, R
Mancini, G M
Ciana, G
Bembi, B
Producer:
19951120
In:
American journal of medical genetics
vol. 58
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14.
Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.
[electronic resource]
by
Havelaar, A C
Mancini, G M
Beerens, C E
Souren, R M
Verheijen, F W
Producer:
19990126
In:
The Journal of biological chemistry
vol. 273
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15.
Fibroblast silver loading for the diagnosis of Menkes disease.
[electronic resource]
by
Verheijen, F W
Beerens, C E
Havelaar, A C
Kleijer, W J
Mancini, G M
Producer:
19990105
In:
Journal of medical genetics
vol. 35
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16.
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
[electronic resource]
by
Mancini, G M S
de Coo, I F M
Lequin, M H
Arts, W F
Producer:
20040719
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
vol. 8
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17.
Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acid.
[electronic resource]
by
van der Horst, G T
Mancini, G M
Brossmer, R
Rose, U
Verheijen, F W
Producer:
19900801
In:
The Journal of biological chemistry
vol. 265
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18.
Pitfalls in the diagnosis of multiple sulfatase deficiency.
[electronic resource]
by
Mancini, G M
van Diggelen, O P
Huijmans, J G
Stroink, H
de Coo, R F
Producer:
20010920
In:
Neuropediatrics
vol. 32
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19.
Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.
[electronic resource]
by
Galjaard, H
Willemsen, R
Hoogeveen, A T
Mancini, G M
Palmeri, S
Verheijen, F W
D'Azzo, A
Producer:
19880418
In:
Enzyme
vol. 38
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20.
Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage.
[electronic resource]
by
Lichtenbelt, K D
Pistorius, L R
De Tollenaer, S M
Mancini, G M
De Vries, L S
Producer:
20120928
In:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
vol. 39
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