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	1	Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology Enthalten in Journal of inherited metabolic disease 16.7.2018: 1-12
	2	The phenotype of adult versus pediatric patients with inborn errors of metabolism Enthalten in Journal of inherited metabolic disease 6.6.2018: 1-4
	3	A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis Enthalten in Human genetics Bd. 113, Nr. 2, date:7.2003: 118-122
	4	Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy Enthalten in Pediatric radiology Bd. 31, Nr. 9, date:9.2001: 650-655
	5	Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency Enthalten in Human genetics Bd. 99, Nr. 6, date:5.1997: 785-792
	6	Inborn Metabolic Diseases Berlin, Heidelberg : Springer Berlin Heidelberg, 1995, Second Edition
	7	Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) Enthalten in Human genetics Bd. 94, Nr. 5, date:11.1994: 551-556
	8	Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus Enthalten in Human genetics Bd. 86, Nr. 4, date:2.1991: 355-358
	9	Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency Enthalten in Human genetics Bd. 84, Nr. 2, date:1.1990: 167-171
	10	A probable sex difference in mutation rates in ornithine transcarbamylase deficiency Enthalten in Human genetics Bd. 84, Nr. 2, date:1.1990: 163-166

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