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Journal of Inherited Metabolic Disease|June 10, 2006
Inborn error of amino acid synthesis: human glutamine synthetase deficiencyJohannes Häberle, Boris Görg, Annick Toutain, et al.Human Mutation|September 16, 2010
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expressionHolger Thiele, Marcel du Moulin, Katarzyna Barczyk, et al.Journal of Inherited Metabolic Disease|February 4, 2010
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patientSusann Gailus, Terttu Suormala, Ayse Gül Malerczyk-Aktas, et al.Cells|July 12, 2024
Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling AxisBoris Tchernychev, Yvonne Nitschke, Di Chu, et al.Pediatric Research|September 9, 2021
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQGeertje B Liemburg, Stephan C J Huijbregts, Frank Rutsch, et al.Journal of Inherited Metabolic Disease|July 27, 2025
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension StudiesMarkey McNutt, Frank Rutsch, Rossana Sanchez Russo, et al.JIMD Reports|November 6, 2013
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort StudySarah Leuders, Eva Wolfgart, Torsten Ott, et al.The New England Journal of Medicine|November 4, 2005
Congenital glutamine deficiency with glutamine synthetase mutationsJohannes Häberle, Boris Görg, Frank Rutsch, et al.Plos Genetics|April 28, 2022
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcificationDouglas Ralph, Yvonne Nitschke, Michael A Levine, et al.European Journal of Human Genetics : EJHG|February 18, 2011
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disordersJana Herholz, Alessandra Meloni, Mara Marongiu, et al.Pageof 12