Frank Rutsch
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View article: Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe? Open
This case highlights the complexity of ARHR2 management, the importance of accurate genetic diagnosis, and concerns regarding the safety of phosphate supplementation. Close cardiovascular monitoring is essential, and future therapies shoul…
View article: Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute
Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute Open
View article: Necrolytic migratory erythema following prolonged continuous subcutaneous dasiglucagon administration: a rare dermatologic adverse event
Necrolytic migratory erythema following prolonged continuous subcutaneous dasiglucagon administration: a rare dermatologic adverse event Open
Summary Clinical management of congenital hyperinsulinism (CHI) remains a significant challenge due to its complex pathophysiology and the limitations of available therapies. Dasiglucagon, a synthetic glucagon analog, represents a novel ap…
View article: P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria
P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria Open
View article: Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy
Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy Open
ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) plays a critical role by converting extracellular ATP to AMP, generating extracellular PPi, a potential inhibitor of calcification. Pathogenic variants in the ENPP1 cause generaliz…
View article: Neurocognitive functioning remained unchanged in adults with phenylketonuria: Report of a 15‐year follow‐up
Neurocognitive functioning remained unchanged in adults with phenylketonuria: Report of a 15‐year follow‐up Open
Aim The long‐term prognosis of treated phenylketonuria (PKU) is a controversial issue. A controlled long‐term study was performed to assess the neuropsychological outcome in adult patients with early treated PKU. Methods We investigated 27…
View article: The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) Open
View article: Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis
Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis Open
The Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) ectoenzyme regulates vascular intimal proliferation and mineralization of bone and soft tissues. ENPP1 variants cause Generalized Arterial Calcification of Infancy (GACI), a ra…
View article: Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels
Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels Open
Background: We assessed the relationship between the cognitive development of children and adolescents with phenylketonuria (PKU) and fluctuations in peripheral phenylalanine (Phe) levels. Methods: We examined the neurocognitive performanc…
View article: P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population
P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population Open
Phenylketonuria (PKU) is an inborn error of amino acid metabolism characterized by chronic elevations of blood phenylalanine (Phe). While dietary management is historically the standard of care, Adults with PKU (AwPKU) are often unable to …
View article: Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria Open
Phenylketonuria is characterized by intellectual disability and behavioral, psychiatric, and movement disorders resulting from phenylalanine (Phe) accumulation. Standard-of-care treatment involves a Phe-restricted diet plus medical nutriti…
View article: Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles
Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles Open
Calcified aortic valve disease in its final stage leads to aortic valve stenosis, limiting cardiac function. To date, surgical intervention is the only option for treating calcific aortic valve stenosis. This study combined controlled drug…
View article: Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design Open
View article: Two years of pegvaliase in Germany: Experiences and best practice recommendations
Two years of pegvaliase in Germany: Experiences and best practice recommendations Open
The practical consensus recommendations provide guidance on the different steps along the pegvaliase journey from clinical site requirements to treatment goals and outcomes. The recommendations are intended to support less experienced Euro…
View article: P339: Vosoritide therapy in patients with achondroplasia: Early experience and practical considerations for clinical practice
P339: Vosoritide therapy in patients with achondroplasia: Early experience and practical considerations for clinical practice Open
View article: Added Value of a Mental Health Specialist for Evaluation of Undiagnosed Patients in Centres for Rare Diseases – The ZSE-DUO Cohort Study
Added Value of a Mental Health Specialist for Evaluation of Undiagnosed Patients in Centres for Rare Diseases – The ZSE-DUO Cohort Study Open
View article: Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases Open
View article: Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study Open
This study represents one of the largest datasets of prospectively collected medical and longitudinal growth data in children with achondroplasia. It serves as a robust historical control to measure therapeutic interventions against and to…
View article: Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria Open
To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations (target range, 120–360 μmol/L) during pregnancy are recommended for women with PKU. We evaluated the feasibility and effectiveness of current recommendatio…
View article: INZ-701, a recombinant ENPP1-Fc protein, effectively treats and prevents neointimal proliferation in WT and ENPP1 Deficient mice
INZ-701, a recombinant ENPP1-Fc protein, effectively treats and prevents neointimal proliferation in WT and ENPP1 Deficient mice Open
Funding Acknowledgements Type of funding sources: Private company. Main funding source(s): Inozyme Pharma Inactivating mutations in ENPP1, which encodes the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), underlie the rare inh…
View article: CRLF1 and CLCF1 in Development, Health and Disease
CRLF1 and CLCF1 in Development, Health and Disease Open
Cytokines and their receptors have a vital function in regulating various processes such as immune function, inflammation, haematopoiesis, cell growth and differentiation. The interaction between a cytokine and its specific receptor trigge…
View article: Dual Guidance Structure for Evaluation of Patients with Unclear Diagnosis in Centers for Rare Diseases (ZSE-DUO): Study Protocol for a Controlled Multi-center Cohort Study
Dual Guidance Structure for Evaluation of Patients with Unclear Diagnosis in Centers for Rare Diseases (ZSE-DUO): Study Protocol for a Controlled Multi-center Cohort Study Open
Background In individuals suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis often extends over many years. Factors contributing to delayed diagnosis include health care professionals' limited kn…
View article: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Open
View article: A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method
A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method Open
Purpose Generalized arterial calcification of infancy, pseudoxanthoma elasticum, autosomal recessive hypophosphatemic rickets type 2, and hypophosphatasia are rare inherited disorders associated with altered plasma levels of inorganic pyro…
View article: Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ Open
View article: Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial Open
View article: Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study Open
View article: Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data Open
View article: Alkaline Phosphatases Account for Low Plasma Levels of Inorganic Pyrophosphate in Chronic Kidney Disease
Alkaline Phosphatases Account for Low Plasma Levels of Inorganic Pyrophosphate in Chronic Kidney Disease Open
Introduction Patients on dialysis and kidney transplant recipients (KTR) present the syndrome of mineral and bone disorders (MBD), which share common traits with monogenic calcifying diseases related to disturbances of the purinergic syste…
View article: A natural history study in patients with ENPP1 deficiency
A natural history study in patients with ENPP1 deficiency Open