R B Schutgens
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Explore the profile of R B Schutgens including associated specialties, affiliations and a list of published articles.
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200
Citations
2737
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Recent Articles
1.
Konijnenberg A, van Geel B, Sturk A, Schaap M, von dem Borne A, de Bruijne-Admiraal L, et al.
Platelets
. 2006 Jun;
9(1):41-8.
PMID: 16793744
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal beta-oxidation, which results in accumulation of very long-chain fatty acids, causing damage to the nervous system, adrenal cortex and testis. The...
2.
Scheffer P, Bakker S, Popp-Snijders C, Heine R, Schutgens R, Teerlink T
Diabetes Metab Res Rev
. 2002 Jan;
17(6):459-66.
PMID: 11757082
Background: There is increasing evidence that oxidation of low-density lipoprotein (LDL) in the vascular wall plays an important role in the development of atherosclerosis. The present study was undertaken to...
3.
Leegwater P, Vermeulen G, Konst A, Naidu S, Mulders J, Visser A, et al.
Nat Genet
. 2001 Nov;
29(4):383-8.
PMID: 11704758
Leukoencephalopathy with vanishing white matter (VWM) is an inherited brain disease that occurs mainly in children. The course is chronic-progressive with additional episodes of rapid deterioration following febrile infection or...
4.
Tjoa M, van Vugt J, Mulders M, Schutgens R, Oudejans C, van Wijk I
Obstet Gynecol
. 2001 Sep;
98(4):600-7.
PMID: 11576575
Objective: Previous studies have shown decreased levels of placenta growth factor in serum of pregnant women with preeclampsia. The aim of this study was to investigate whether levels of placenta...
5.
Hogema B, Gupta M, Senephansiri H, Burlingame T, Taylor M, Jakobs C, et al.
Nat Genet
. 2001 Sep;
29(2):212-6.
PMID: 11544478
Succinate semialdehyde dehydrogenase (ALDH5A1, encoding SSADH deficiency is a defect of 4-aminobutyric acid (GABA) degradation that manifests in humans as 4-hydroxybutyric (gamma-hydroxybutyric, GHB) aciduria. It is characterized by a non-specific...
6.
Leegwater P, Yuan B, van der Steen J, Mulders J, Konst A, Boor P, et al.
Am J Hum Genet
. 2001 Mar;
68(4):831-8.
PMID: 11254442
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor functions with ataxia, and spasticity, eventuating in mental decline. The brain appears swollen...
7.
Hogema B, Akaboshi S, Taylor M, Salomons G, Jakobs C, Schutgens R, et al.
Mol Genet Metab
. 2001 Mar;
72(3):218-22.
PMID: 11243727
Inherited succinic semialdehyde dehydrogenase (SSADH; EC1.2.1.24; McKusick 271980) deficiency is a defect of GABA degradation which leads to accumulation of 4-hydroxybutyric acid (gamma-hydroxybutyric acid; GHB) in physiologic fluids of patients....
8.
Mulder C, Scheltens P, Visser J, Van Kamp G, Schutgens R
Ann Clin Biochem
. 2000 Oct;
37 ( Pt 5):593-607.
PMID: 11026514
No abstract available.
9.
Gibson K, Burlingame T, Hogema B, Jakobs C, Schutgens R, Millington D, et al.
Pediatr Res
. 2000 Jun;
47(6):830-3.
PMID: 10832746
An 4-mo-old male was found to have an isolated increase in 2-methylbutyrylglycine (2-MBG) and 2-methylbutyrylcamitine (2-MBC) in physiologic fluids. In vitro oxidation studies in cultured fibroblasts using 13C- and 14C-labeled...
10.
Leegwater P, Konst A, Kuyt B, Sandkuijl L, Naidu S, Oudejans C, et al.
Am J Hum Genet
. 1999 Aug;
65(3):728-34.
PMID: 10441579
Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder with normal early development and, usually, childhood-onset neurological deterioration. At present, diagnosis of VWM is based on clinical examination...