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1985 1
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2002 5
2008 2
2009 1
2011 3
2012 1
2013 2
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2017 1
2018 1
2021 3
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29 results

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Page 1
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Among authors: labrune p. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disea …
Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventin …
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Among authors: labrune p. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
Differential diagnoses include the other GSDs, in particular type III (see this term). However, in GSDIII, glycemia and lactacidemia are high after a meal and low after a fast period (often with a later occurrence than that of type I). ...
Differential diagnoses include the other GSDs, in particular type III (see this term). However, in GSDIII, glycemia and lactacidemia …
Puberty and fertility in classic galactosemia.
Flechtner I, Viaud M, Kariyawasam D, Perrissin-Fabert M, Bidet M, Bachelot A, Touraine P, Labrune P, de Lonlay P, Polak M. Flechtner I, et al. Among authors: labrune p. Endocr Connect. 2021 Feb;10(2):240-247. doi: 10.1530/EC-21-0013. Endocr Connect. 2021. PMID: 33491660 Free PMC article.
Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000-60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments. ...
Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000-60,000. Long-term …
Glycogen storage disease type I: indications for liver and/or kidney transplantation.
Labrune P. Labrune P. Eur J Pediatr. 2002 Oct;161 Suppl 1:S53-5. doi: 10.1007/s00431-002-1004-y. Epub 2002 Jul 19. Eur J Pediatr. 2002. PMID: 12373572 Review.
Orthotopic liver transplantation has been reported in less than 20 patients, and, in most cases, its indications were multiple hepatic adenomas, sometimes combined with poor metabolic control and/or growth retardation. Even though short-term outcome seems to be favourable, …
Orthotopic liver transplantation has been reported in less than 20 patients, and, in most cases, its indications were multiple hepatic adeno …
[Natural history of hepatic glycogen storage diseases].
Labrune P, Eberschweiler PT, Boudjemline AM, Hubert-Buron A, Petit F, Gajdos V. Labrune P, et al. Presse Med. 2008 Jul-Aug;37(7-8):1172-7. doi: 10.1016/j.lpm.2007.09.023. Epub 2008 Feb 29. Presse Med. 2008. PMID: 18313893 Review. French.
During the last twenty years, medical progress has allowed children who used to die before they reached the age of ten years to reach adulthood. It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood. …
During the last twenty years, medical progress has allowed children who used to die before they reached the age of ten years to reach adulth …
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Berling É, Laforêt P, Wahbi K, Labrune P, Petit F, Ronzitti G, O'Brien A. Berling É, et al. Among authors: labrune p. J Inherit Metab Dis. 2021 May;44(3):521-533. doi: 10.1002/jimd.12355. Epub 2021 Jan 3. J Inherit Metab Dis. 2021. PMID: 33368379 Review.
Finally, we discuss current and upcoming treatment strategies such as gene therapy aimed at the replacement of the malfunctioning enzyme to provide a stable and long-term therapeutic option for this debilitating disease....
Finally, we discuss current and upcoming treatment strategies such as gene therapy aimed at the replacement of the malfunctioning enzyme to …
Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothers.
Simon A, Warszawski J, Kariyawasam D, Le Chenadec J, Benhammou V, Czernichow P, Foissac F, Laborde K, Tréluyer JM, Firtion G, Layouni I, Munzer M, Bavoux F, Polak M, Blanche S; ANRS French Perinatal Cohort Study Group. Simon A, et al. JAMA. 2011 Jul 6;306(1):70-8. doi: 10.1001/jama.2011.915. JAMA. 2011. PMID: 21730243
RESULTS: Of 50 HIV-1-uninfected newborns who received lopinavir-ritonavir at birth for a median of 30 days (interquartile range [IQR], 25-33), 7 (14%) had elevated 17OHP levels greater than 16.5 ng/mL for term infants (>23.1 ng/mL for preterm) on days 1 to 6 vs 0 …
RESULTS: Of 50 HIV-1-uninfected newborns who received lopinavir-ritonavir at birth for a median of 30 days (interquartile range [IQR] …
Glycogen storage disease type 1 and diabetes: learning by comparing and contrasting the two disorders.
Rajas F, Labrune P, Mithieux G. Rajas F, et al. Among authors: labrune p. Diabetes Metab. 2013 Oct;39(5):377-87. doi: 10.1016/j.diabet.2013.03.002. Epub 2013 May 2. Diabetes Metab. 2013. PMID: 23643353 Review.
However, both diseases share remarkably similar patterns in terms of pathophysiology such as the long-term progression of renal dysfunction and hepatic steatosis leading to renal failure and the development of hepatic tumours, respectively. ...
However, both diseases share remarkably similar patterns in terms of pathophysiology such as the long-term progression of renal dysfu …
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.
Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, Wendel U, Smit GP; European Study on Glycogen Storage Disease Type I. Visser G, et al. Among authors: labrune p. Eur J Pediatr. 2002 Oct;161 Suppl 1:S120-3. doi: 10.1007/s00431-002-1017-6. Epub 2002 Sep 13. Eur J Pediatr. 2002. PMID: 12373585 Review.
Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. ...
Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term …
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP; European Study on Glycogen Storage Disease Type I (ESGSD I). Rake JP, et al. Among authors: labrune p. Eur J Pediatr. 2002 Oct;161 Suppl 1:S112-9. doi: 10.1007/s00431-002-1016-7. Epub 2002 Aug 24. Eur J Pediatr. 2002. PMID: 12373584 Review.
Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. ...
Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term managem …
29 results