I. Degen

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

B. Loeys, R. Segel, S. Brooks, 2010, European Journal of Human Genetics.

Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I.

R. Happle, G. Hoffmann, R. Hoffmann, 2001, European journal of dermatology : EJD.

Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up

C. Manegold, G. Hoffmann, E. Wilichowski, 2009, Journal of Inherited Metabolic Disease.

The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.

C. Poets, A. Sewell, B. Pontz, 1996, American journal of medical genetics.

Valproic Acid–induced Hepatopathy: Nine New Fatalities in Germany from 1994 to 2003

S. Fitzek, Y. Weber, E. Longin, 2006, Epilepsia.

Valproic acid induced hepatopathy – Nine new fatalities in Germany from 1994–2003

S. Fitzek, Y. Weber, E. Longin, 2006 .

[Extent of drug compliance in Crohn disease patients--study of a special ambulatory care unit of a university clinic].

K. Ewe, U. Karbach, I. Degen, 1984, Zeitschrift für Gastroenterologie - German Journal of Gastroenterology.

Comparison of three clinical rating scales in Friedreich ataxia (FRDA)

Dagmar Timmann, Sylvia Boesch, Thomas Klockgether, 2009, Movement disorders : official journal of the Movement Disorder Society.

Aromatic L-amino acid decarboxylase deficiency: Clinical picture, laboratory finding and medical treatment

C. Manegold, G. Hoffmann, E. Wilichowski, 2008 .