Susanne Schweitzer

A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic

Maria Veiga‐da‐Cunha, Isabelle Gerin, Yuan‐Tsong Chen et al. · The American Journal of Human Genetics · 1998 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib

Horst Schroten, Joachim Roesler, Thomas Breidenbach et al. · The Journal of Pediatrics · 1991 · 79 citations

Life Sciences, Hematology, Immunology +12

Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

Barbara Burwinkel, Joachim Kreuder, Susanne Schweitzer et al. · Biochemical and Biophysical Research Communications · 1999 · 69 citations

Life Sciences, Genetics, Molecular Genetics +10

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL‐receptor gene mutation

Hartmut H‐J. Schmidt, Uwe J.F. Tietge, Janine Buettner et al. · Clinical Transplantation · 2007 · 44 citations

Medicine, Cardiology, Genetics +17

Non-Union of the Ulna in a Ten-Month-Old Child Who Had Type-IV Hereditary Sensory Neuropathy. A Case Report*

Christian Krettek, S. Glüer, Hajo Thermann et al. · Journal of Bone and Joint Surgery · 1997 · 11 citations

Medicine, Neurology, Pediatrics +12