Cordula Steglich

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients

Susanna Bunge, Wim J. Kleijer, Cordula Steglich et al. · Human Molecular Genetics · 1994 · 119 citations

Life Sciences, Genetics, Molecular Genetics +10

LETM1, a gene deleted in Wolf–Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein

Stephanie Schlickum, Abhay Moghekar, Jeremy C. Simpson et al. · Genomics · 2003 · 105 citations

Life Sciences, Genetics, Molecular Genetics +9

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Susanna Bunge, Wim J. Kleijer, Anna Tylki‐Szymańska et al. · Human Mutation · 1997 · 74 citations

Life Sciences, Genetics, Molecular Genetics +16

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

Susanna Bunge, Hüseyin İnce, Cordula Steglich et al. · Human Mutation · 1997 · 71 citations

Life Sciences, Genetics, Molecular Genetics +17

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

Susanna Bunge, Cordula Steglich, Cornelia Zuther et al. · Human Molecular Genetics · 1993 · 70 citations

Life Sciences, Genetics, Molecular Genetics +9