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Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

Autor: H. Zweers van Essen, Saskia B. Wortmann, Eva Morava, R. Liebrand van Sambeek, O. P. van Diggelen, Ron A. Wevers

Publikováno v: Journal of Inherited Metabolic Disease, 28, 5, pp. 703-6
Journal of Inherited Metabolic Disease, 28, 703-6
Journal of Inherited Metabolic Disease, 28(5), 703-706. Springer Netherlands

Contains fulltext : 47742.pdf (Publisher’s version ) (Closed access) Patients with glycogen storage disease type IXa present with infantile hepatomegaly and a specific growth pattern, and variable biochemical alterations in blood. We studied the cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d847a4f35d29dae3f9f1d5f3de7fb14
https://doi.org/10.1007/s10545-005-0095-9

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Mitochondrial energy production correlates with the age-related BMI.

Autor: Wortmann SB; Department of Pediatrics, Radboud University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands., Zweers-van Essen H, Rodenburg RJ, van den Heuvel LP, de Vries MC, Rasmussen-Conrad E, Smeitink JA, Morava E

Publikováno v: Pediatric research [Pediatr Res] 2009 Jan; Vol. 65 (1), pp. 103-8.