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Akademický článek

Management of late onset urea cycle disorders—a remaining challenge for the intensivist?

Autor: S. Redant, A. Empain, A. Mugisha, P. Kamgang, R. Attou, P. M. Honoré, D. De Bels

Publikováno v: Annals of Intensive Care, Vol 11, Iss 1, Pp 1-10 (2021)

Abstract Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity. Urea cycle disorders are autosomal recessive diseases ex

Externí odkaz: https://doaj.org/article/556985cd3c9e402c8aa50ba8dc8a04a9

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Akademický článek

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo

Externí odkaz: https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8

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Akademický článek

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Akademický článek

Management of late onset urea cycle disorders—a remaining challenge for the intensivist?

Autor: Redant, S.¹ (AUTHOR), Empain, A.² (AUTHOR), Mugisha, A.¹ (AUTHOR), Kamgang, P.³ (AUTHOR), Attou, R.¹ (AUTHOR), Honoré, P. M.¹ (AUTHOR) patrick.honore@chu-brugmann.be, De Bels, D.¹ (AUTHOR)

Publikováno v: Annals of Intensive Care. 1/6/2021, Vol. 11 Issue 1, p1-10. 10p.

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Akademický článek

Irritability, Poor Feeding and Respiratory Alkalosis in Newborns: Think about Metabolic Emergencies. A Brief Summary of Hyperammonemia Management.

Autor: Re, Stefano Del¹ stefanodelre@hotmail.com, Empain, Aurélie² aurelie.empain@huderf.be, Vicinanza, Alfredo³ alfredo.vicinanza@huderf.be, Balasel, Ovidiu¹ ovidiu.balasel@huderf.be, Johansson, Anne-Britt¹ anne-britt.johansson@huderf.be, Stalens, Jean-Philippe⁴ jean-philippe.stalens@chwapi.be, De Laet, Corinne² corinne.delaet@huderf.be

Publikováno v: Pediatric Reports. 2020, Vol. 12 Issue 3, p77-85. 9p.

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Ascites in infantile onset type II Sialidosis

Autor: Kaoutar Tazi, Vanessa Guy‐Viterbo, Alexander Gheldof, Aurélie Empain, Anne Paternoster, Corinne De Laet

Sialidosis is a rare autosomal-recessive lysosomal storage disease due to mutations in the NEU1 gene leading to a deficit of alpha-n-acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins/peptides and oligosaccharides in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1caf601b796441480425e01d56ae1fb
https://hdl.handle.net/20.500.14017/95ef0181-7f80-43e6-a650-61acd06ff146

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Galactokinase deficiency

Publikováno v: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Genetics in Medicine
Genetics in Medicine, 23(1), 202-210. Nature Publishing Group
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9
Genetics in medicine, 23(1), 202-210. Lippincott Williams and Wilkins

PURPOSE: Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable. Data from affected patients included in the Galactosemias Network registry were collected to bette

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37dd47a5aaff6b00735d1f908cb3b8e
https://doi.org/10.1038/s41436-020-00942-9

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Irritability, Poor Feeding and Respiratory Alkalosis in Newborns: Think about Metabolic Emergencies. A Brief Summary of Hyperammonemia Management

Autor: Alfredo Vicinanza, Stefano Del Re, Aurélie Empain, Ovidiu Balasel, Anne Britt Johansson, Corinne De Laet, Jean-Philippe Stalens

Publikováno v: Pediatric Reports

The urea cycle is a series of metabolic reactions that convert ammonia into urea in order to eliminate it from the body. Urea cycle disorders are characterized by hyperammonemia, which can cause irreversible damages in central nervous system. We repo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e776270659f623801f400005041559d
https://doi.org/10.3390/pediatric12030019

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Akademický článek

Gestion communale du patrimoine arboré non forestier : aperçu des moyens disponibles

Autor: Paul R., Toussaint A., Campanella B., Empain C.

Publikováno v: Biotechnologie, Agronomie, Société et Environnement, Vol 12, Iss 3, Pp 239-244 (2008)

Urban tree management in walloon municipalities: overview of available means. A survey has been sent in 2006 to the 262 municipalities from Wallonia concerning their green areas management and particularly focused on local arboricultural heritage. Th

Externí odkaz: https://doaj.org/article/b7f7bbe2ef924fe7abf465a7189183b7

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