Gaele Pitelet
Overview
Explore the profile of Gaele Pitelet including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
102
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0
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Recent Articles
1.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, et al.
Eur J Neurol
. 2023 May;
30(9):2828-2837.
PMID: 37235686
Background: Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term...
2.
Ucuncu E, Rajamani K, Wilson M, Medina-Cano D, Altin N, David P, et al.
Nat Commun
. 2020 Dec;
11(1):6087.
PMID: 33257696
Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an...
3.
Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, et al.
Eur J Paediatr Neurol
. 2018 Mar;
22(3):369-379.
PMID: 29506905
Purpose: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment...
4.
Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur T, Cheillan D, Christensen E, et al.
Hum Mutat
. 2014 Jan;
35(4):462-9.
PMID: 24415674
Guanidinoacetate methyltransferase deficiency (GAMT-D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoacetate levels in body fluids are the...
5.
Huppke P, Brendel C, Kalscheuer V, Korenke G, Marquardt I, Freisinger P, et al.
Am J Hum Genet
. 2012 Jan;
90(1):61-8.
PMID: 22243965
Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings...