F. Gleich

发表

Newborn screening for homocystinurias: Recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of inherited metabolic disease.

Newborn screening for homocystinurias: recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of Inherited Metabolic Disease.

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

M. Baumgartner, S. Parker, A. Chakrapani, 2015, JIMD reports.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

S. Kölker, P. Burgard, A. Lund, 2019, Journal of inherited metabolic disease.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency

Gloria L. Porras-Hurtado, Y. Chien, C. Moreau, 2022, Journal of inherited metabolic disease.

M. Baumgartner, M. Ribeiro, M. Landolt, 2020, Journal of inherited metabolic disease.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

M. Baumgartner, À. García‐Cazorla, J. Zeman, 2016, Journal of Inherited Metabolic Disease.

How longitudinal observational studies can guide screening strategy for rare diseases

S. Kölker, S. Garbade, N. Boy, 2022, Journal of inherited metabolic disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

M. Baumgartner, H. Blom, S. Kölker, 2020, Journal of inherited metabolic disease.

Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

S. Grünert, S. Kölker, R. Posset, 2022, Journal of inherited metabolic disease.

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut

M. Baumgartner, D. S. Froese, S. Kölker, 2020, Journal of inherited metabolic disease.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

S. Kölker, R. Posset, G. Hoffmann, 2017, Orphanet Journal of Rare Diseases.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

A. Gropman, J. Probst, S. Kölker, 2020, Molecular genetics and metabolism.

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

M. Leichsenring, S. Grünert, S. Kölker, 2020, Pediatrics.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

S. Grünert, T. Marquardt, S. Kölker, 2021, Journal of inherited metabolic disease.

Early prediction of phenotypic severity in Citrullinemia Type 1

A. Gropman, S. Kölker, R. Posset, 2019, Annals of clinical and translational neurology.

Health Outcomes of Infants With Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.

S. Grünert, S. Kölker, J. Okun, 2021, The Journal of pediatrics.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

S. Kölker, R. Santer, P. Burgard, 2022, Journal of inherited metabolic disease.

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

S. Kölker, T. Opladen, F. Gleich, 2022, Frontiers in Endocrinology.

Waning Immunity 14 Months After SARS-Cov-2 Infection.

R. Bartenschlager, B. Tönshoff, H. Kräusslich, 2022, Pediatrics.

Air contamination due to smoking in German restaurants, bars, and other venues--before and after the implementation of a partial smoking ban.

U. Mons, Ute Mons, Martina Pötschke-Langer, 2011, Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

C. Thiel, K. Tsiakas, S. Kölker, 2021, Journal of inherited metabolic disease.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

A. Gropman, S. Kölker, J. Okun, 2020, Human mutation.

U-IMD: the first Unified European registry for inherited metabolic diseases

F. Schaefer, S. Kölker, D. Martinelli, 2020, Orphanet Journal of Rare Diseases.

Postauthorization safety study of betaine anhydrous

M. Baumgartner, H. Blom, F. Mochel, 2022, Journal of inherited metabolic disease.

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data

S. Kölker, Matthias Zielonka, N. Boy, 2023, Journal of inherited metabolic disease.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

Elena Schnabel, S. Kölker, J. Okun, 2023, Nutrients.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

A. Gropman, S. Kölker, J. Okun, 2022, Annals of clinical and translational neurology.

Journal of Inherited Metabolic Disease

Heidelberg, Padova, C., 1991, Springer Netherlands.

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

S. Kölker, M. Lindner, R. Santer, 2023, Journal of inherited metabolic disease.