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Dorothea Haas

University Hospital Heidelberg

10

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182

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The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.

2021 Journal of Inherited Metabolic Disease
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Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.

2021 The Journal of Pediatrics
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Impact of glycogen storage disease type I on adult daily life: a survey

2021 Orphanet Journal of Rare Diseases
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Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.

2020 Orphanet Journal of Rare Diseases
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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

2019 Genetics in Medicine
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Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

2016 Journal of Inherited Metabolic Disease
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Plasma and thrombocyte levels of coenzyme Q10 in children with Smith‐Lemli‐Opitz syndrome (SLOS) and the influence of HMG‐CoA reductase inhibitors

2008 Biofactors
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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

2007 Journal of Inherited Metabolic Disease
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Citations (66)