Birgit Weber

Targeting of a lysosomal membrane protein: a tyrosine-containing endocytosis signal in the cytoplasmic tail of lysosomal acid phosphatase is necessary and sufficient for targeting to lysosomes.

Christoph Peters, Marcus Braun, Birgit Weber et al. · The EMBO Journal · 1990 · 182 citations · Full text

Lysosomal Membrane Protein, Signal Transduction, Tyrosine-containing Endocytosis Signal +15

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

Birgit Weber, Xiao-Hui Guo, Wim J. Kleijer et al. · European Journal of Human Genetics · 1999 · 107 citations · Full text

Medicine, Pathogenesis, Genetic Epidemiology +6

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

Birgit Weber · Human Molecular Genetics · 1996 · 86 citations

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

Birgit Weber · Human Molecular Genetics · 1997 · 86 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mps Iiia +13

Molecular Defects in Sanfilippo Syndrome Type A

Lianne C. Blanch, Birgit Weber, X H Guo et al. · Human Molecular Genetics · 1997 · 63 citations · Full text