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Journal of Inherited Metabolic Disease|August 11, 2004
Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseasesJ Panetta, L J Smith, A BonehJournal of Inherited Metabolic Disease|June 16, 2007
Family conditions and dietary control in phenylketonuriaG M Olsson, S M Montgomery, J AlmJournal of Inherited Metabolic Disease|January 1, 1987
HPRT-deficiency associated with normal PRPP concentration and APRT activityR B Gordon, D T Keough, B T EmmersonJournal of Inherited Metabolic Disease|November 24, 2016
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomographyDaniela Choukair, Carolin Kneppo, Reinhard Feneberg, et al.Journal of Inherited Metabolic Disease|August 4, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiencyFrancisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo, et al.Journal of Inherited Metabolic Disease|July 11, 2023
Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo-controlled, double-blind, cross-over studyNicoline Løkken, Tahmina Khawajazada, Anna Slipsager, et al.Journal of Inherited Metabolic Disease|July 4, 2023
State-of-the-art 2023 on gene therapy for phenylketonuriaMichael Martinez, Cary O Harding, Gerald Schwank, et al.Journal of Inherited Metabolic Disease|July 30, 2026
Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT DeficiencyIlona Tkachyova, Dahai Wang, Alex Lee, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The NetherlandsB J Koopman, B G Wolthers, J C van der Molen, et al.Journal of Inherited Metabolic Disease|September 11, 2019
The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testingRoeland A F Evers, Annemiek M J van Wegberg, Karen Anjema, et al.Pageof 429