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Stefanie Rosenbaum-Fabian

University of Freiburg

11

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18

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Peritoneal inclusion cyst in a patient with glycogen storage disease type Ib and Crohn’s like disease

2021
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Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.

2021 Orphanet Journal of Rare Diseases
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Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

2021
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Citrin deficiency mimicking mitochondrial depletion syndrome.

2020 BMC Pediatrics
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Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.

2020 Nutrients
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Three successful pregnancies in a patient with glycogen storage disease type 0

2020
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Elevated Plasma Vitamin B12 in Patients with Hepatic Glycogen Storage Diseases

2020 Journal of Clinical Medicine
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Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

2020 Orphanet Journal of Rare Diseases
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Successful pregnancy in maple syrup urine disease: a case report and review of the literature

2018 Nutrition Journal
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Prävention im Jugendalter

2018
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