False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency

Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.

JIMD reports·2025

Comparison of Methods for Isolation of Listeria from Raw Milk.

Journal of food protection·2019

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.

Journal of inherited metabolic disease·2019

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.

Molecular genetics and metabolism·2019

Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2018

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2016