Gudrun Göhlich‐Ratmann

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

Thomas Voït, P Kutz, Barbara Leube et al. · Neuromuscular Disorders · 2001 · 61 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

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

Sytske H. Moolenaar, Gudrun Göhlich‐Ratmann, Udo F. H. Engelke et al. · Magnetic Resonance in Medicine · 2001 · 59 citations

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

P. Vreken, André B. P. Kuilenburg, Naoki Hamajima et al. · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 1999 · 37 citations

Human Bup-1 Gene, Natural Sciences, Genetics +10

HMSNL in a 13-year-old Bulgarian girl

Martina Baethmann, Gudrun Göhlich‐Ratmann, Johann Michael Schröder et al. · Neuromuscular Disorders · 1998 · 37 citations

13-Year-old Bulgarian Girl

Hydrocephalus Internus in Two Patients with 5,10-Methylenetetrahydrofolate Reductase Deficiency

Martina Baethmann, U. Wendel, Georg F. Hoffmann et al. · Neuropediatrics · 2000 · 33 citations

Electrolyte Disorder, Hydrocephalus Internus, Pediatric Hydrocephalus +12