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Person

Christian Staufner (1980-)

Arzt

Name	Christian Staufner
Time	1980- (Date of birth and death)
Place	München (Geburtsort) Heidelberg (Wirkungsort) Deutschland
Gender	männlich
Academic degree	PD Dr. med.
Profession	Arzt (characteristic profession)
Variant	Christian Maximilian Staufner
Related	Klinikum Heidelberg
Further information	Dresden, Techn. Univ., Med. Fak., Diss., 2010; Arzt, Klinik Kinderheilkunde I, Zentrum für Kinder- und Jugendmedizin Heidelberg, Universitätsklinikum Heidelberg
Record type	Person
GND-Identifier	141097515
Record ID	141097515
Involved in show all Genetic landscape of pediatric acute liver failure of indeterminate origin Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic Clinical implementation of RNA sequencing for Mendelian disease diagnostics SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016 Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders Impact of clinical exomes in neurodevelopmental and neurometabolic disorders Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders Genetic cause and prevalence of hydroxyprolinemia Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation Cross-sectional observational study of 208 patients with non-classical urea cycle disorders Expressionsprofil ionotroper und metabotroper Glutamatrezeptoren bei pädiatrischen ZNS-Tumoren

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Christian Staufner (1980-)

Genetic landscape of pediatric acute liver failure of indeterminate origin

Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

Genetic cause and prevalence of hydroxyprolinemia

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Expressionsprofil ionotroper und metabotroper Glutamatrezeptoren bei pädiatrischen ZNS-Tumoren