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The Journal of Pediatrics|December 10, 2022
Cost-Effectiveness of Newborn Screening for Phenylketonuria and Congenital HypothyroidismKajsa Appelberg, Lene Sörensen, Rolf H Zetterström, et al.
JIMD Reports|July 30, 2016
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014Annika Ohlsson, Helene Bruhn, Anna Nordenström, et al.
Epilepsia|September 25, 2015
The ketogenic diet compensates for AGC1 deficiency and improves myelinationMaria Dahlin, Daniel A Martin, Zandra Hedlund, et al.
Analytical Biochemistry|October 31, 2025
Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samplesRolf Wibom, David Alsina, Karin Naess, et al.
The Journal of Clinical Endocrinology and Metabolism|December 7, 2006
Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasoneTatja Hirvikoski, Anna Nordenström, Torun Lindholm, et al.
Stem Cells Translational Medicine|April 8, 2024
Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical PerspectivesJulia Rogal, Laura Nicoleti Zamproni, Polyxeni Nikolakopoulou, et al.
European Journal of Endocrinology|July 14, 2004
Postoperative differentiation between unilateral adrenal adenoma and bilateral adrenal hyperplasia in primary aldosteronism by mRNA expression of the gene CYP11B2Ulla Enberg, Cristina Volpe, Anders Höög, et al.
Neurology. Genetics|August 6, 2020
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epitheliaTommy Stödberg, Måns Magnusson, Nicole Lesko, et al.
The Journal of Clinical Endocrinology and Metabolism|June 7, 2002
Novel mutations in CYP21 detected in individuals with hyperandrogenismSvetlana Lajić, Séverine Clauin, Tiina Robins, et al.
Epilepsia|June 2, 2022
Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based studyTommy Stödberg, Torbjörn Tomson, Britt-Marie Anderlid, et al.
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