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Publications by Frank Rutsch

Mutations in ABCD4 Cause a New Inborn Error of Vitamin B12 Metabolism

Nature Genetics
Genetics
2012English

SAMHD1 Restricts HIV-1 Infection in Resting CD4+ T Cells

Nature Medicine
BiochemistryMedicineGeneticsMolecular Biology
2012English

ENPP1-Fc Prevents Neointima Formation in Generalized Arterial Calcification of Infancy Through the Generation of AMP

Experimental and Molecular Medicine
BiochemistryMedicineClinical BiochemistryMolecular BiologyMolecular Medicine
2018English

Exome Sequencing in Crisponi/CISS-like Individuals Reveals Unpredicted Alternative Diagnoses

Clinical Genetics
Genetics
2019English

Crisponi/Cold‐induced Sweating Syndrome: Differential Diagnosis, Pathogenesis and Treatment Concepts

Clinical Genetics
Genetics
2019English

Efficacy, Safety and Population Pharmacokinetics of Sapropterin in PKU Patients <4 Years: Results From the SPARK Open-Label, Multicentre, Randomized Phase IIIb Trial

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2017English

Diagnostic Utility of Small Fiber Analysis in Skin Biopsies From Children With Chronic Pain

Muscle and Nerve
Molecular NeuroscienceNeurologyPhysiologyCellular
2019English

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated With a Novel Mutation in ENPP1

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2011English

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American Journal of Human Genetics
Genetics
2007English

Generalized Arterial Calcification of Infancy: Treatment With Bisphosphonates

Nature Reviews Endocrinology
EndocrinologyMetabolismDiabetes
2009English

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