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Christian Thiel (1972-)

Arzt

Name	Christian Thiel
Zeit	1972- (Lebensdaten)
Ort	Göttingen (Geburtsort) Heidelberg (Wirkungsort) Göttingen (Wirkungsort) Deutschland
Geschlecht	männlich
Akademischer Grad bzw. Titel	Dr. rer. nat. (2002) PD Dr. rer.nat. (2013)
Beruf	Arzt (charakteristischer Beruf) Biochemiker Biologe
Beziehung	Zentrum für Kinder- und Jugendmedizin (Heidelberg) Universität Heidelberg. Medizinische Fakultät (2013-) Glykosylierung (Thema)
Weitere Angaben	Dietmar-Hopp-Stoffwechselzentrum, Funktionsbereich Glykosilierungsstörungen (CDG)
Datensatztyp	Person
GND-Nummer	124888127
Datensatz-ID	124888127
Beteiligt an alle anzeigen Targeted proteomics reveals quantitative differences in low-abundance glycosyltransferases of patients with congenital disorders of glycosylation A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy Limitations of galactose therapy in phosphoglucomutase 1 deficiency Unsuccessful intravenous D-mannose treatment in PMM2-CDG SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG Impact of clinical exomes in neurodevelopmental and neurometabolic disorders Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling Screening for congenital disorders of glycosylation in the first weeks of life Congenital disorder of glycosylation (CDG)-Ih : Identifizierung eines Defekts in der Dol-P-Man:Man1-2-GlcNAc2-PP-Dol-Mannosyltransferase Stifters Vitiko : Vom Wesen d. Politischen

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Katalog der Deutschen Nationalbibliothek

Christian Thiel (1972-)

Targeted proteomics reveals quantitative differences in low-abundance glycosyltransferases of patients with congenital disorders of glycosylation

A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

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

Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal

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

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling

Screening for congenital disorders of glycosylation in the first weeks of life

Congenital disorder of glycosylation (CDG)-Ih : Identifizierung eines Defekts in der Dol-P-Man:Man1-2-GlcNAc2-PP-Dol-Mannosyltransferase

Stifters Vitiko : Vom Wesen d. Politischen