S Beblo
Overview
Explore the profile of S Beblo including associated specialties, affiliations and a list of published articles.
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Articles
15
Citations
294
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0
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Recent Articles
1.
Evers R, van Wegberg A, Ahring K, Beblo S, Belanger-Quintana A, Bosch A, et al.
Mol Genet Metab
. 2021 Feb;
132(4):215-219.
PMID: 33610470
Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH), although there is no consensus on the definition of BH responsiveness. The aim of this study therefore...
2.
Macdonald A, van Wegberg A, Ahring K, Beblo S, Belanger-Quintana A, Burlina A, et al.
Orphanet J Rare Dis
. 2020 Sep;
15(1):230.
PMID: 32873338
An amendment to this paper has been published and can be accessed via the original article.
3.
Macdonald A, van Wegberg A, Ahring K, Beblo S, Belanger-Quintana A, Burlina A, et al.
Orphanet J Rare Dis
. 2020 Jul;
15(1):171.
PMID: 32605583
Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main Body: In 2017 the...
4.
Becker S, Rohnike S, Empting S, Haas D, Mohnike K, Beblo S, et al.
Anal Bioanal Chem
. 2015 May;
407(17):5227-33.
PMID: 25963649
Smith-Lemli-Opitz syndrome (SLOS) is an inherited metabolic disease in the cholesterol biosynthesis pathway which is characterised by accumulation of 7- and 8-dehydrocholesterol and by reduced cholesterol concentrations in all tissues...
5.
Rohde C, Mutze U, Schulz S, Thiele A, Ceglarek U, Thiery J, et al.
Eur J Clin Nutr
. 2014 Jan;
68(3):401-3.
PMID: 24398645
Phenylketonuria (PKU) therapy demands phenylalanine (Phe) calculation. In most countries, almost all food is taken into account, even fruits and vegetables. We investigated whether unrestricted consumption of fruits and vegetables...
6.
Rohde C, von Teeffelen-Heithoff A, Thiele A, Arelin M, Mutze U, Kiener C, et al.
Eur J Clin Nutr
. 2013 Nov;
68(1):119-24.
PMID: 24253763
Objective: To investigate micronutrient supply in phenylketonuria (PKU) patients on a relaxed diet. Subjects/methods: Sixty-seven patients (6-45 years) with a phenylalanine tolerance ≥ 600 mg/day were included in the study....
7.
Thiele A, Weigel J, Ziesch B, Rohde C, Mutze U, Ceglarek U, et al.
JIMD Rep
. 2013 Feb;
9:31-40.
PMID: 23430545
Background: Since 2008 patients with BH(4)-sensitive phenylketonuria can be treated with sapropterin dihydrochloride (Kuvan®) in addition to the classic phenylalanine (Phe) restricted diet. The aim of this study was to...
8.
Ziesch B, Weigel J, Thiele A, Mutze U, Rohde C, Ceglarek U, et al.
J Inherit Metab Dis
. 2012 Mar;
35(6):983-92.
PMID: 22391997
Background: Tetrahydrobiopterin (BH(4))-sensitive phenylketonuria (PKU) can be treated with sapropterin dihydrochloride. We studied metabolic control and health-related quality of life (HRQoL) in PKU patients treated with BH(4). Subjects And Methods:...
9.
Rohde C, Mutze U, Weigel J, Ceglarek U, Thiery J, Kiess W, et al.
Eur J Clin Nutr
. 2012 Feb;
66(5):633-8.
PMID: 22318648
Background/objectives: The treatment of phenylketonuria (PKU) requires consistent restriction of protein intake from natural sources. Therefore, protein from all foods has to be accounted for, even the small amounts in...
10.
Grunert S, Mullerleile S, De Silva L, Barth M, Walter M, Walter K, et al.
J Inherit Metab Dis
. 2011 Dec;
35(1):41-9.
PMID: 22134541
Background: Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are...