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Nature Genetics|July 26, 2003
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationFrank Rutsch, Nico Ruf, Sucheta Vaingankar, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 24, 2017
Vpx overcomes a SAMHD1-independent block to HIV reverse transcription that is specific to resting CD4 T cellsHanna-Mari Baldauf, Lena Stegmann, Sarah-Marie Schwarz, et al.
Advances in Therapy|October 26, 2023
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical PracticeOliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
47 patients with FLNA associated periventricular nodular heterotopiaMax Lange, Burkhard Kasper, Axel Bohring, et al.
Nutrients|November 17, 2019
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Metabolism: Clinical and Experimental|January 30, 2026
Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trialMaria Giżewska, Anita Inwood, Renáta Tyčová, et al.
Nature Genetics|August 28, 2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismDavid Coelho, Jaeseung C Kim, Isabelle R Miousse, et al.
American Journal of Human Genetics|July 9, 2016
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaAndrea Angius, Paolo Uva, Insa Buers, et al.
Scientific Reports|September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
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