Wolfram Haller

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

Stefan Kölker, Sven F. Garbade, Nikolas Boy et al. · Pediatric Research · 2007 · 111 citations · Full text

Acute Encephalopathic Crises, Newborn Screening, Neonatology +7

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Zinan Zhang, Florian Gothe, Perrine Pennamen et al. · The Journal of Experimental Medicine · 2019 · 88 citations · Full text

An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease

Chrissy Bolton, Christopher S. Smillie, Sumeet Pandey et al. · Gastroenterology · 2021 · 86 citations · Full text

Inflammation, Rheumatology, Autoimmune Disease +6

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

P. Smits, Hana Antonická, Peter M. van Hasselt et al. · European Journal of Human Genetics · 2010 · 51 citations · Full text

Molecular Physiology, Mitochondrial Biogenesis, Mitochondrial Function +11

Thyroxine, tri-iodothyronine, and reverse tri-iodothyronine concentrations in human milk

S. K. Varma, MARY-F. COLLINS, Anupama T. Row et al. · The Journal of Pediatrics · 1978 · 49 citations

Nutrition, Allergy, Iodine Deficiency Disorders +6