V Valayannopoulos
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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
1.
Harmatz P, Hendriksz C, Lampe C, McGill J, Parini R, Leao-Teles E, et al.
Mol Genet Metab
. 2017 May;
122(1-2):107-112.
PMID: 28457718
Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate....
2.
Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, et al.
Orphanet J Rare Dis
. 2016 Jun;
11(1):84.
PMID: 27343064
Background: Type I congenital disorders of glycosylation (CDG-I) are mostly complex multisystemic diseases associated with hypoglycosylated serum glycoproteins. A subgroup harbour mutations in genes necessary for the biosynthesis of the...
3.
Brassier A, Valayannopoulos V, Bahi-Buisson N, Wiame E, Hubert L, Boddaert N, et al.
Eur J Paediatr Neurol
. 2015 Nov;
20(1):53-60.
PMID: 26610677
Objective And Patients: We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with...
4.
Charbit-Henrion F, Lacaille F, McKiernan P, Girard M, de Lonlay P, Valayannopoulos V, et al.
Am J Transplant
. 2015 Feb;
15(3):786-91.
PMID: 25683683
Propionic acidemia (PA) is a severe metabolic disorder with cardiac and neurologic complications and a poor quality of life. Liver transplantation (LT) was thus proposed in PA to increase enzyme...
5.
Baujat G, Valayannopoulos V
Arch Pediatr
. 2014 Jul;
21 Suppl 1:S32-8.
PMID: 25063382
Type IV mucopolysaccharidosis (Morquio A syndrome; MPS IVA; OMIM 253000), is a multisystemic, severe and very disabling disease, also life-threatening; MPS IVA is due to a deficiency of the enzyme...
6.
Bricout M, Grevent D, Lebre A, Rio M, Desguerre I, de Lonlay P, et al.
J Med Genet
. 2014 May;
51(7):429-35.
PMID: 24793058
Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number...
7.
Devaux-Bricout M, Grevent D, Lebre A, Rio M, Desguerre I, de Lonlay P, et al.
Rev Neurol (Paris)
. 2014 Apr;
170(5):381-9.
PMID: 24768439
Mitochondrial diseases are due to deficiency of the respiratory chain and are characterized by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Some clinical presentations are highly suggestive...
8.
Leroux S, Muller J, Boutaric E, Busnel A, Lemouel F, Andro-Garcon M, et al.
Arch Pediatr
. 2014 Apr;
21(5):501-6.
PMID: 24698225
Hurler syndrome, the most severe form of mucopolysaccharidosis type I (MPS I), is a rare lysosomal storage disease. The overall incidence of MPS I is 0.99-1.99/100,000 live births. Accumulation of...
9.
Dejean de la Batie C, Barbier V, Valayannopoulos V, Touati G, Maltret A, Brassier A, et al.
J Child Neurol
. 2013 Dec;
29(2):274-9.
PMID: 24334345
Propionic acidemia is an inborn deficiency of propionyl-coenzyme A (CoA) carboxylase activity, which leads to mitochondrial accumulation of propionyl-CoA and its by-products. Neurologic complications are frequent, but only a few...
10.
Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson M, et al.
Mol Genet Metab
. 2013 Jun;
110(1-2):106-10.
PMID: 23751327
Introduction: Patients with methylmalonic acidemia (MMA) may develop many complications despite medical treatment, in particular, severe central nervous system damage and chronic kidney disease (CKD). A kidney transplant may partially...