Katharina J. Weiss
Munich, BY, Germany
Last Updated: 09/26/2026
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Found 10 publications
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Journal: Journal of inherited metabolic disease
Published: May 06, 2023
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Journal: Clinical genetics
Published: December 16, 2022
microRNA Expression Profile of Purified Alveolar Epithelial Type II Cells.
Journal: Genes
Published: June 12, 2022
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.
Journal: Frontiers in neurology
Published: September 21, 2021
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.
Journal: Molecular genetics and metabolism reports
Published: April 18, 2021
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
Journal: Orphanet journal of rare diseases
Published: February 25, 2021
Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy
Journal: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
Published: June 17, 2020
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Journal: Annals of nutrition & metabolism
Published: March 18, 2020
Management of three preterm infants with phenylketonuria.
Journal: Nutrition (Burbank, Los Angeles County, Calif.)
Published: February 20, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026