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Person

Anke Schumann (1979-)

Ärztin

Name	Anke Schumann
Zeit	1979- (Lebensdaten)
Ort	Bonn (Geburtsort) Deutschland Schweiz
Beruf	Ärztin (charakteristischer Beruf)
Variante	Anke Haarmann (früherer Name) A. Haarmann
Beziehung	Universitätsklinikum Freiburg
Weitere Angaben	Diss. Medizinische Fakultät der Univ. Heidelberg ; Dissertation Universität Zürich, 2017 (Mathematisch-naturwissensschaftliche Fakultät, Dr. sc. nat.)
Datensatztyp	Person
GND-Nummer	134106601
Datensatz-ID	134106601
Beteiligt an alle anzeigen Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study Altered markers of mitochondrial function in adults with autism spectrum disorder Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study Riboflavin 1 transporter deficiency : : novel SLC52A1 variants and expansion of the phenotypic spectrum The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria Analysis of S-adenosylmethionine and S-adenosylhomocysteine: method optimisation and profiling in healthy adults upon short-term dietary intervention Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells Defective lysosomal storage in Fabry Disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells Evidence for a genotype–phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families Isolated hypomethylation of IGF2 associated with severe hypoglycemia responsive to growth hormone treatment Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria Organic acidurias: major gaps, new challenges, and a yet unfulfilled promise Successful pregnancy in a woman with glycogen storage disease type 6 Three successful pregnancies in a patient with glycogen storage disease type 0 Citrin deficiency mimicking mitochondrial depletion syndrome Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! Targeted metabolic profiling of methionine cycle metabolites and redox thiol pools in mammalian plasma, cells and urine Unsuccessful intravenous D-mannose treatment in PMM2-CDG Successful pregnancy in maple syrup urine disease: a case report and review of the literature Successful pregnancy in maple syrup urine disease : : a case report and review of the literature Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias Die Bedeutung des insulin-like growth factor, insulin-like growth factor Bindungsprotein-Systems für die Differenzierung von Wachstumsfugen-Chondrozyten

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Katalog der Deutschen Nationalbibliothek

Anke Schumann (1979-)

Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias

Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study

Altered markers of mitochondrial function in adults with autism spectrum disorder

Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases

Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study

Riboflavin 1 transporter deficiency : : novel SLC52A1 variants and expansion of the phenotypic spectrum

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria

Analysis of S-adenosylmethionine and S-adenosylhomocysteine: method optimisation and profiling in healthy adults upon short-term dietary intervention

Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate

Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib

Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells

Defective lysosomal storage in Fabry Disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells

Evidence for a genotype–phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants

Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families

Isolated hypomethylation of IGF2 associated with severe hypoglycemia responsive to growth hormone treatment

Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria

Organic acidurias: major gaps, new challenges, and a yet unfulfilled promise

Successful pregnancy in a woman with glycogen storage disease type 6

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

Citrin deficiency mimicking mitochondrial depletion syndrome

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

Targeted metabolic profiling of methionine cycle metabolites and redox thiol pools in mammalian plasma, cells and urine

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Successful pregnancy in maple syrup urine disease: a case report and review of the literature

Successful pregnancy in maple syrup urine disease : : a case report and review of the literature

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

Die Bedeutung des insulin-like growth factor, insulin-like growth factor Bindungsprotein-Systems für die Differenzierung von Wachstumsfugen-Chondrozyten