Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease
…, LP Van Den Heuvel, RJ Rodenburg, E Mayatepek… - Brain, 2009 - academic.oup.com
Mitochondria are essential for cellular bioenergetics by way of energy production in the form
of ATP through the process of oxidative phosphorylation. This crucial task is executed by five …
of ATP through the process of oxidative phosphorylation. This crucial task is executed by five …
A guide to diagnosis and treatment of Leigh syndrome
…, JA Smeitink, WJH Koopman, E Mayatepek… - Journal of Neurology …, 2014 - jnnp.bmj.com
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy
or early childhood. However, also late-onset cases have been reported. Since its first …
or early childhood. However, also late-onset cases have been reported. Since its first …
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren–Larsson syndrome
…, JGN de Jong, PHMF van Domburg, E Mayatepek… - Brain, 2001 - academic.oup.com
Sjögren–Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous
disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase …
disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase …
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
…, D Kohlmuller, K Olgemöller, E Mayatepek… - …, 2003 - publications.aap.org
Objective. The aims of this study were to determine the impact of expanded newborn
screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn …
screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn …
[HTML][HTML] IL-1RA antibodies in myocarditis after SARS-CoV-2 vaccination
…, S Greulich, M Gawaz, E Mayatepek… - … England Journal of …, 2022 - Mass Medical Soc
IL-1RA Antibodies in Myocarditis after SARS-CoV-2 Vaccination | NEJM Skip to main content
NEJM Group Follow Us Facebook Twitter Instagram YouTube LinkedIn Prepare to become a …
NEJM Group Follow Us Facebook Twitter Instagram YouTube LinkedIn Prepare to become a …
[HTML][HTML] Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
J Pietz, R Kreis, A Rupp, E Mayatepek… - The Journal of …, 1999 - Am Soc Clin Investig
Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport
across the blood-brain barrier (BBB) via the L-type amino acid carrier. Accordingly, elevated …
across the blood-brain barrier (BBB) via the L-type amino acid carrier. Accordingly, elevated …
[PDF][PDF] Physical exercise–induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic β cells
…, F Schuit, R Quintens, I Sipilä, E Mayatepek… - The American Journal of …, 2007 - cell.com
Exercise-induced hyperinsulinism (EIHI) is a dominantly inherited hypoglycemic disorder
characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate …
characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate …
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
GF Hoffmann, C Charpentier, E Mayatepek… - …, 1993 - publications.aap.org
Objective. Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the
first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of …
first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of …
Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome
E Mayatepek, B Flock - The Lancet, 1998 - thelancet.com
Summary Background Cysteinyl leukotrienes (LTC 4, LTD 4, LTE 4) are potent lipid
mediators derived from arachidonic acid in the 5-lipoxygenase pathway that exert profound …
mediators derived from arachidonic acid in the 5-lipoxygenase pathway that exert profound …
Long-term follow-up of 114 patients with congenital hyperinsulinism
…, P Burgard, S Schaetzle, E Mayatepek - European journal of …, 2003 - academic.oup.com
Background The term congenital hyperinsulinism (CHI) comprises a group of different
genetic disorders with the common finding of recurrent episodes of hyperinsulinemic …
genetic disorders with the common finding of recurrent episodes of hyperinsulinemic …