Jana Heringer

发表

Use of guidelines improves the neurological outcome in glutaric aciduria type I

I. Harting, J. Zschocke, S. Kölker, 2010, Annals of neurology.

Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1

I. Harting, S. Kölker, S. Garbade, 2019, Journal of inherited metabolic disease.

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1

I. Harting, S. Kölker, S. Garbade, 2018, Journal of Inherited Metabolic Disease.

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

I. Harting, O. Bodamer, S. Kölker, 2017, Orphanet Journal of Rare Diseases.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

I. Harting, C. Greenberg, J. Zschocke, 2017, Journal of Inherited Metabolic Disease.

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

S. Kölker, G. Hoffmann, P. Burgard, 2015, Orphanet Journal of Rare Diseases.

Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

S. Kölker, J. Okun, P. Burgard, 2015 .

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

I. Harting, P. Pouwels, M. Bendszus, 2015, Journal of Inherited Metabolic Disease.

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

S. Kölker, G. Hoffmann, P. Burgard, 2013, Journal of Inherited Metabolic Disease.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

C. Greenberg, A. Schlune, S. Kölker, 2012, Molecular genetics and metabolism.

Glutaric aciduria type I: A translational approach to an enigmatic disease

S. Kölker, J. Okun, S. Sauer, 2011 .

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

M. Baumgartner, S. Grünert, T. Marquardt, 2018, Annals of neurology.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.