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Claudia Cozma

Name	Claudia Cozma
Zeit	2009- (Wirkungsdaten)
Ort	Deutschland
Geschlecht	weiblich
Akademischer Grad bzw. Titel	Dr.
Beziehung	Centogeen GmbH (Rostock) Biochemie (Thema) Biotechnologie (Thema)
Datensatztyp	Person
GND-Nummer	1278019340
Datensatz-ID	1278019340
Beteiligt an alle anzeigen Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test An HLA-B27 Homodimer Specific Antibody Recognizes a Discontinuous Mixed-Disulfide Epitope as Identified by Affinity-Mass Spectrometry Determination of Primary Structure and Affinity Characterization of Naturally Occurring β-Amyloid Autoantibodies Testing the feasibility of fully automated chip‐based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease Klinische Diagnostik von Lysosomalen Speicherkrankheiten Glycosylation profiles of epitope-specific anti-beta-amyloid antibodies revealed by liquid chromatography mass spectrometry Structural characterization of ß-amyloid oligomer-aggregates by ion mobility mass spectrometry and electron spin resonance spectroscopy

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Katalog der Deutschen Nationalbibliothek

Claudia Cozma

Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

An HLA-B27 Homodimer Specific Antibody Recognizes a Discontinuous Mixed-Disulfide Epitope as Identified by Affinity-Mass Spectrometry

Determination of Primary Structure and Affinity Characterization of Naturally Occurring β-Amyloid Autoantibodies

Testing the feasibility of fully automated chip‐based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease

Klinische Diagnostik von Lysosomalen Speicherkrankheiten

Glycosylation profiles of epitope-specific anti-beta-amyloid antibodies revealed by liquid chromatography mass spectrometry

Structural characterization of ß-amyloid oligomer-aggregates by ion mobility mass spectrometry and electron spin resonance spectroscopy