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Applied Biochemistry and Biotechnology|November 26, 2009
Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylaseCátia Nascimento, João Leandro, Paulo Roque Lino, et al.
Clinical Biochemistry|February 11, 2010
The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populationsRita Castro, Madalena Barroso, Mónica Rocha, et al.
European Journal of Pediatrics|January 9, 2019
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening eraPatrícia Janeiro, Rita Jotta, Ruben Ramos, et al.
JIMD Reports|March 28, 2015
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic ModelAna I Coelho, Matilde Trabuco, Maria João Silva, et al.
Nefrologia|February 14, 2024
Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variantFilipa Ferreira, Clara Gonçalves Bacelar, Pedro Lisboa-Gonçalves, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|April 1, 2017
Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic TestingIsabel Tavares, João Paulo Oliveira, Ana Pinho, et al.
Molecular Genetics and Metabolism|August 30, 2011
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patientsIsabel Rivera, Dina Mendes, Ângela Afonso, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals|October 16, 2004
Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondriaMargarida F B Silva, Lodewijk Ijlst, Paul Allers, et al.
Journal of Renal Nutrition : the Official Journal of the Council on Renal Nutrition of the National Kidney Foundation|July 3, 2004
Bioimpedance analysis highlights changes in body composition at the early stages of impairment of kidney transplant functionAndreia Coroas, José G G de Oliveira, Susana Sampaio, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 17, 2013
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitinesSara Violante, Lodewijk Ijlst, Heleen Te Brinke, et al.
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