G. Göhlich-Ratmann

Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency

R. Wanders, T. Voit, J. Schröder, 2004, Acta Neuropathologica.

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

T. Voit, E. Neuen‐Jacob, B. Leube, 2001, Neuromuscular Disorders.

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine

P. Vreken, A. V. van Kuilenburg, M. Spraul, 2001, Magnetic resonance in medicine.

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?

G. Gillessen‐kaesbach, T. Voit, A. Lackner, 2000, American journal of medical genetics.

HMSNL in a 13-year-old Bulgarian girl

L. Kalaydjieva, T. Voit, J. Schröder, 1998, Neuromuscular Disorders.

Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome.

H. Christen, H. Goebel, H. Lenard, 1998, American journal of medical genetics.

Detection of β-ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level

A. V. van Kuilenburg, H. van Lenthe, R. Wevers, 2001, Journal of Inherited Metabolic Disease.

Acute cerebellitis with near-fatal cerebellar swelling and benign outcome under conservative treatment with high dose steroids.

C. Roll, T. Voit, M. Roggendorf, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency.

H. Blom, T. Voit, G. Hoffmann, 2000, Neuropediatrics.

cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase.

P. Vreken, A. V. van Kuilenburg, H. van Lenthe, 1999, Biochimica et biophysica acta.

NE1571 314..317

T. Voit, U. Wendel, M. Baethmann, 2022 .