Your search returned 30 results.

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	1.	Mitochondrial disorders: clinical presentation and diagnostic dilemmas. [electronic resource] by Smeitink, J A M Producer: 20040305 In: Journal of inherited metabolic disease vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[Mitochondrial diseases; thinking beyond organ specialism necessary]. [electronic resource] by Smits, B W Smeitink, J A M van Engelen, B G M Producer: 20081211 In: Nederlands tijdschrift voor geneeskunde vol. 152 Availability: No items available. Save to lists Add to cart (remove)
	3.	Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. [electronic resource] by Wortmann, S B Rodenburg, R Schwahn, B Smeitink, J A M Morava, E Producer: 20070621 In: Genetic counseling (Geneva, Switzerland) vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	4.	Some practical aspects of providing a diagnostic service for respiratory chain defects. [electronic resource] by Janssen, A J M Smeitink, J A M van den Heuvel, L P Producer: 20030625 In: Annals of clinical biochemistry vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. [electronic resource] by Smits, P Rodenburg, R J Smeitink, J A M van den Heuvel, L P Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	[Risk of acute hepatic insufficiency in children due to chronic accidental overdose of paracetamol (acetaminophen)]. [electronic resource] by Hameleers-Snijders, P Hogeveen, M Smeitink, J A M Kramers, C Draaisma, J M Th Producer: 20070606 In: Nederlands tijdschrift voor geneeskunde vol. 151 Availability: No items available. Save to lists Add to cart (remove)
	7.	The human complex I NDUFS4 subunit: from gene structure to function and pathology. [electronic resource] by Budde, S M S van den Heuvel, L P W J Smeitink, J A M Producer: 20051020 In: Mitochondrion vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Early cardiac involvement in children carrying the A3243G mtDNA mutation. [electronic resource] by Wortmann, S B Rodenburg, R J Backx, A P Schmitt, E Smeitink, J A M Morava, E Producer: 20070501 In: Acta paediatrica (Oslo, Norway : 1992) vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. [electronic resource] by Hinttala, R Smeets, R Moilanen, J S Ugalde, C Uusimaa, J Smeitink, J A M Majamaa, K Producer: 20061215 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system. [electronic resource] by Coenen, M J H Smeitink, J A M Smeets, R Trijbels, F J M van den Heuvel, L P Producer: 20060705 In: Journal of inherited metabolic disease vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood. [electronic resource] by Roeleveld-Versteegh, A B C Braun, K P J Smeitink, J A M Dorland, L de Koning, T J Producer: 20041230 In: Journal of inherited metabolic disease vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Proteomics and neuromuscular diseases: theoretical concept and first results. [electronic resource] by van den Heuvel, L P Farhoud, M H Wevers, R A van Engelen, B G M Smeitink, J A M Producer: 20030625 In: Annals of clinical biochemistry vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases. [electronic resource] by Breuer, M E Koopman, W J Koene, S Nooteboom, M Rodenburg, R J Willems, P H Smeitink, J A M Producer: 20130724 In: Neurobiology of disease vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Smith-Lemli-Opitz syndrome and the DHCR7 gene. [electronic resource] by Jira, P E Waterham, H R Wanders, R J A Smeitink, J A M Sengers, R C A Wevers, R A Producer: 20040223 In: Annals of human genetics vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A>G mutation. [electronic resource] by de Laat, P Zweers, H E E Knuijt, S Smeitink, J A M Wanten, G J A Janssen, M C H Producer: 20161213 In: The Netherlands journal of medicine vol. 73 Availability: No items available. Save to lists Add to cart (remove)
	16.	Mitochondrial disease criteria: diagnostic applications in children. [electronic resource] by Morava, E van den Heuvel, L Hol, F de Vries, M C Hogeveen, M Rodenburg, R J Smeitink, J A M Producer: 20061227 In: Neurology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Mitochondrial dysfunction in a patient with Joubert syndrome. [electronic resource] by Morava, E Dinopoulos, A Kroes, H Y Rodenburg, R J T van Bokhoven, H van den Heuvel, L P Smeitink, J A M Producer: 20050929 In: Neuropediatrics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot study. [electronic resource] by Koene, S Timmermans, J Weijers, G de Laat, P de Korte, C L Smeitink, J A M Janssen, M C H Kapusta, L Producer: 20171207 In: Journal of inherited metabolic disease vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism. [electronic resource] by Vlaardingerbroek, H Hornstra, G de Koning, T J Smeitink, J A M Bakker, H D de Klerk, H B C Rubio-Gozalbo, M E Producer: 20060627 In: Molecular genetics and metabolism vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. [electronic resource] by de Vries, M C Rodenburg, R J Morava, E Lammens, M van den Heuvel, L P W Korenke, G Christoph Smeitink, J A M Producer: 20120111 In: Journal of inherited metabolic disease vol. 31 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 30 results.