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List of works by Frank Rutsch

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

scientific article published on 22 May 2017

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient

scientific article published on 3 February 2010

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

scientific article

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

scientific article

Case 1: An infant with heart failure (case presentation)

scientific article published on 01 January 2009

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

scientific article published on November 1, 2010

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

scientific article published on June 2011

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

scientific article published on 01 June 2020

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

scientific article published on 19 June 2013

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP

scientific article published on 29 October 2018

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

scientific journal article

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

scientific article published on 20 September 2011

Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

scientific article published on 01 January 2018

Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation

scientific article published in August 2014

Expression of NPP1 is regulated during atheromatous plaque calcification

scientific article published on February 2011

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

scientific article published on June 25, 2011

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

scientific article published on 29 December 2011

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

scientific article

Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

scientific article

Generalized arterial calcification of infancy: two siblings with prolonged survival

scientific article

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

scientific article published on 28 May 2020

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel

scientific article

Hereditary Disorders of Cardiovascular Calcification

scientific article published on 12 November 2020

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

scientific article

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

scientific article

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

scientific article

Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease

scientific article published on 20 February 2010

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism

scientific article published on 06 May 2010

Lmbrd1 expression is essential for the initiation of gastrulation

scientific article published on 08 April 2016

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

scientific article published on May 2017

Mechanisms of arterial calcification: spotlight on the inhibitors

scientific article published on January 2008

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

scientific article

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

scientific article

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

scientific article

Novel interferonopathies associated with mutations in RIG-I like receptors

scientific article published on 11 March 2016

Npp1 promotes atherosclerosis in ApoE knockout mice

scientific article

Prevalence of shoulder calcification in pseudoxanthoma elasticum patients

scientific article published on 06 April 2018

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

scientific article

Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents

scientific article published on 24 February 2017

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression

scientific article published on 15 January 2013

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

scientific article published on 01 January 2005

When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria

scientific article published on 18 August 2017

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