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1 . Academic Journal
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
저자
by
van de Kamp, J M
;
Betsalel, O T
;
Mercimek-Mahmutoglu, S
;
Abulhoul, L
;
Grünewald, S
, et al.
소스
Journal of Medical Genetics
. Jul 01, 2013 50(7):463-472
Full Text (BMJ Journals)
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7 . Academic Journal
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.
저자
by
Mancini, G M
;
Hu, P
;
Verheijen, F W
;
van Diggelen, O P
;
Janse, H C
, et al.
소스
European Journal of Pediatrics; 1992, Vol. 151 Issue 8, p590-595, 6p
Full Text (Springer)
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7 . Academic Journal
Free sialic acid storage disease. A new Italian case.
저자
by
Fois, A
;
Balestri, P
;
Farnetani, M A
;
Mancini, G M
;
Borgogni, P
, et al.
소스
European Journal of Pediatrics; 1987 Supplement, Vol. 146 Issue 2, p195-198, 4p
Full Text (Springer)
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7 . Periodical
Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.
저자
by
Havelaar, A C
;
Mancini, G M
;
Beerens, C E
;
Souren, R M
;
Verheijen, F W
.
소스
Journal of Biological Chemistry; December 1998, Vol. 273 Issue: 51 p34568-74, 7p
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7 . Periodical
Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.
저자
by
Mancini, G M
;
Beerens, C E
;
Galjaard, H
;
Verheijen, F W
.
소스
Proceedings of the National Academy of Sciences of the United States of America; July 1992, Vol. 89 Issue: 14 p6609-6613, 5p
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6 . Periodical
Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane
저자
by
Mancini, G M
;
de Jonge, H R
;
Galjaard, H
;
Verheijen, F W
.
소스
Journal of Biological Chemistry; September 1989, Vol. 264 Issue: 26 p15247-15254, 8p
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6 . Academic Journal
Fibroblast silver loading for the diagnosis of Menkes disease.
저자
by
Verheijen, F W
;
Beerens, C E
;
Havelaar, A C
;
Kleijer, W J
;
Mancini, G M
.
소스
Journal of Medical Genetics; Oct1998, Vol. 35 Issue 10, p849-851, 3p, 1 Chart, 1 Graph
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7 . Academic Journal
Sudden infant death and lysinuric protein intolerance.
저자
by
de Klerk, J B
;
Duran, M
;
Huijmans, J G
;
Mancini, G M
.
소스
European Journal of Pediatrics; 1996, Vol. 155 Issue 3, p256-257, 2p
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6 . Academic Journal
Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage.
저자
by
Lichtenbelt KD
;
Pistorius LR
;
De Tollenaer SM
;
Mancini GM
;
De Vries LS
, et al.
소스
In:
Ultrasound in Obstetrics & Gynecology
; Wiley-Blackwell (Malden, Massachusetts) Jun2012; v.39 n.6, 726-727. (2p)
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7 . Academic Journal
First-trimester diagnosis of maple syrup urine disease on intact chorionic villi.
저자
by
Kleijer, W J
;
Horsman, D
;
Mancini, G M
;
Fois, A
;
Boue, J
.
소스
New England Journal of Medicine (Waltham, Massachusetts) 12/19/85; v.313 n.25, 1608-1608. (1p)
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