V Valayannopoulos
Overview
Explore the profile of V Valayannopoulos including associated specialties, affiliations and a list of published articles.
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35
Citations
504
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Recent Articles
11.
van de Kamp J, Betsalel O, Mercimek-Mahmutoglu S, Abulhoul L, Grunewald S, Anselm I, et al.
J Med Genet
. 2013 May;
50(7):463-72.
PMID: 23644449
Background: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype...
12.
Servais A, Arnoux J, Lamy C, Hummel A, Vittoz N, Katerinis I, et al.
J Inherit Metab Dis
. 2012 Dec;
36(6):939-44.
PMID: 23250513
Background: Acute decompensation of maple syrup urine disease (MSUD) is usually treated by enteral feeding with an amino-acid mixture without leucine (Leu), valine or isoleucine. However, its administration is ineffective...
13.
Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attie-Bitach T, Millischer-Bellaiche A, et al.
Arch Pediatr
. 2012 Aug;
19(9):959-69.
PMID: 22884749
Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and the accumulation of a compound upstream...
14.
Valayannopoulos V, Brassier A, Chabli A, Caillaud C, Lemoine M, Odent T, et al.
Arch Pediatr
. 2011 Aug;
18(10):1119-23.
PMID: 21873040
In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for the affected patients. Progressively enzyme replacement...
15.
Lebre A, Rio M, Faivre dArcier L, Vernerey D, Landrieu P, Slama A, et al.
J Med Genet
. 2010 Oct;
48(1):16-23.
PMID: 20972245
Objective: To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, a major cause of respiratory chain dysfunction, accounts for various clinical presentations,...
16.
Bellanne-Chantelot C, Saint-Martin C, Ribeiro M, Vaury C, Verkarre V, Arnoux J, et al.
J Med Genet
. 2010 Aug;
47(11):752-9.
PMID: 20685672
Background: Congenital hyperinsulinism (CHI) is characterised by an over secretion of insulin by the pancreatic β-cells. This condition is mostly caused by mutations in ABCC8 or KCNJ11 genes encoding the...
17.
de Lonlay P, Valayannopoulos V, Arnoux J, Servais A, Charron B, Jacqmarcq O, et al.
Arch Pediatr
. 2010 Jul;
17(6):947-8.
PMID: 20654974
No abstract available.
18.
Rio M, Lebre A, de Lonlay P, Valayannopoulos V, Desguerre I, Dufier J, et al.
Neurology
. 2010 Jul;
75(1):93.
PMID: 20603491
No abstract available.
19.
Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, et al.
J Neuroradiol
. 2010 Apr;
37(4):220-30.
PMID: 20378176
Objectifs: To propose a MRI cerebellar algorithm that may be applied to guide genetic/malformative or biochemical investigations for patients with cerebellar ataxia. Patients And Methods: Cerebral MRI of 158 patients...
20.
Valayannopoulos V, Boddaert N, Barbier V, Le Merrer M, Caillaud C, de Lonlay P
Mol Genet Metab
. 2010 Jan;
100(1):20-3.
PMID: 20106688
Stem cell transplantation is not appropriate first-line treatment for attenuated phenotypes of mucopolysaccharidosis type I (MPS I). In three patients with attenuated MPSA I treated by laronidase, Patients 2 and...