Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts
Janssen, Antoon J.M, Trijbels, Frans J.M, Sengers, Rob C.A, Smeitink, Jan A.M, van den Heuvel, Lambert P, Wintjes, Liesbeth T.M, Stoltenborg-Hogenkamp, Berendien J.M, Rodenburg, Richard J.T
Published in Clinical chemistry (Baltimore, Md.) (01.04.2007)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2007)
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Journal Article
Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology
Janssen, Antoon J.M, Trijbels, Frans J.M, Sengers, Rob C.A, Wintjes, Liesbeth T.M, Ruitenbeek, Wim, Smeitink, Jan A.M, Morava, Eva, van Engelen, Baziel G.M, van den Heuvel, Lambert P, Rodenburg, Richard J.T
Published in Clinical chemistry (Baltimore, Md.) (01.05.2006)
Published in Clinical chemistry (Baltimore, Md.) (01.05.2006)
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Journal Article
Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia
Truin, Gerben, Guillard, Mailys, Lefeber, Dirk J., Sykut-Cegielska, Jolanta, Adamowicz, Maciej, Hoppenreijs, Esther, Sengers, Rob C.A., Wevers, Ron A., Morava, Eva
Published in Molecular genetics and metabolism (01.08.2008)
Published in Molecular genetics and metabolism (01.08.2008)
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Journal Article
Changes in cerebral oxygenation and hemodynamics during cranial ultrasound in preterm infants
van Alfen-van der Velden, Adriana A.E.M, Claessen, Vivian P.J, Hopman, Jeroen C.W, Klaessens, John H.G.M, Sengers, Rob C.A, Liem, Kian D
Published in Brain & development (Tokyo. 1979) (01.06.2009)
Published in Brain & development (Tokyo. 1979) (01.06.2009)
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Journal Article
A new motor performance test in a prospective study on children with suspected myopathy
van den Beld, Willeke A, van der Sanden, Gitty AC, Feuth, Ton, Janssen, Anjo JWM, Sengers, Rob CA, Verbeek, André LM, Gabreëls, Fons JM
Published in Developmental medicine and child neurology (01.09.2006)
Published in Developmental medicine and child neurology (01.09.2006)
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Journal Article
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome
Jordens, Eric Z., Palmieri, Luigi, Huizing, Marjan, Van Den Heuvel, Lambert P., Sengers, Rob C. A., Dörner, Andrea, Ruitenbeek, Wim, Trijbels, Frans J., Valsson, Jullius, Sigfusson, Gunnlaugur, Palmieri, Ferdinando, Smeitink, Jan A. M.
Published in Annals of neurology (01.07.2002)
Published in Annals of neurology (01.07.2002)
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Journal Article
Validity and reproducibility of a new diagnostic motor performance test in children with suspected myopathy
van den Beld, Willeke A, van der Sanden, Gitty AC, Sengers, Rob CA, Verbeek, André LM, Gabreëls, Fons JM
Published in Developmental medicine and child neurology (01.01.2006)
Published in Developmental medicine and child neurology (01.01.2006)
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Journal Article
Nuclear genes and oxidative phosphorylation disorders: a review
Smeitink, J A, Sengers, R C, Trijbels, F J, van den Heuvel, L P
Published in European journal of pediatrics (01.12.2000)
Published in European journal of pediatrics (01.12.2000)
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Journal Article
Cerebral hemodynamics and oxygenation after serial CSF drainage in infants with PHVD
van Alfen-van der Velden, Adriana A.E.M., Hopman, Jeroen C.W., Klaessens, John H.G.M., Feuth, Ton, Sengers, Rob C.A., Liem, Kian D
Published in Brain & development (Tokyo. 1979) (01.11.2007)
Published in Brain & development (Tokyo. 1979) (01.11.2007)
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Journal Article
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome
Jira, P E, Wevers, R A, de Jong, J, Rubio-Gozalbo, E, Janssen-Zijlstra, F S, van Heyst, A F, Sengers, R C, Smeitink, J A
Published in Journal of lipid research (01.08.2000)
Published in Journal of lipid research (01.08.2000)
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Journal Article
new motor performance test in a prospective study on children with suspected myopathy
Van Den Beld, Willeke A, Van Der Sanden, Gitty A C, Feuth, Ton, W, Anjo J, Sengers, Rob C A, Verbeek, André L M, Gabreëls, Fons J M
Published in Developmental medicine and child neurology (01.09.2006)
Published in Developmental medicine and child neurology (01.09.2006)
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Journal Article
Adenine nucleotide translocator 1 deficiency associated with senders syndrome
JORDENS, Eric Z, PALMIERI, Luigi, PALMIERI, Ferdinando, SMEITINK, Jan A. M, HUIZING, Marjan, VAN DEN HEUVEL, Lambert P, SENGERS, Rob C. A, DÖRNER, Andrea, RUITENBEEK, Wim, TRIJBELS, Frans J, VALSSON, Jullius, SIGFUSSON, Gunnlaugur
Published in Annals of neurology (2002)
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Published in Annals of neurology (2002)
Journal Article
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis : a new mitochondrial defect
BAKKER, H. D, SCHOLTE, H. R, VAN DEN BOGERT, C, RUITENBEEK, W, JENESON, J. A. L, WANDERS, R. J. A, ABELING, N. G. G. M, DORLAND, B, SENGERS, R. C. A, VAN GENNIP, A. H
Published in Pediatric research (01.04.1993)
Published in Pediatric research (01.04.1993)
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Journal Article
Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect
BAKKER, HENK D., SCHOLTE, HANS R., VAN DEN, COBY, RUITENBEEK, WIM, JENESON, JEROEN A. L., WANDERS, RONALD J. A., ABELING, NICO G. G. M., DORLAND, BERT, SENGERS, ROB C. A., VAN GENNIP, ALBERT H.
Published in Pediatric research (1993)
Published in Pediatric research (1993)
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Journal Article
Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis
van Ekeren, G J, Stadhouders, A M, Egberink, G J, Sengers, R C, Daniëls, O, Kubat, K
Published in Virchows Archiv. A, Pathological anatomy and histopathology (1987)
Published in Virchows Archiv. A, Pathological anatomy and histopathology (1987)
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