Erika Vucko
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View article: Phenylketonuria in adults: we know plenty, but there is much more to learn
Phenylketonuria in adults: we know plenty, but there is much more to learn Open
View article: Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach Open
View article: Lessons learned from 5 years of pegvaliase in US clinics: A case series
Lessons learned from 5 years of pegvaliase in US clinics: A case series Open
Experience from the presented cases and 5 years of expert experience with pegvaliase in the real-world setting provide insight and guidance for healthcare professionals initiating and managing pegvaliase treatment in complex PKU cases. The…
View article: Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients
Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients Open
Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (S…
View article: Management of Dysglycemia in a Pregnancy Complicated by Fanconi–Bickel Syndrome
Management of Dysglycemia in a Pregnancy Complicated by Fanconi–Bickel Syndrome Open
View article: Management of a urea cycle disorder in the setting of socioeconomic and language barriers
Management of a urea cycle disorder in the setting of socioeconomic and language barriers Open
Argininosuccinic aciduria (ASA) is a disorder that results from a deficiency in the urea cycle enzyme argininosuccinate lyase. Variable manifestations of this hereditary disorder are associated with hyperammonemia and can include lethargy,…
View article: P889: Evaluating social influences on blood phenylalanine levels in phenylketonuria patients
P889: Evaluating social influences on blood phenylalanine levels in phenylketonuria patients Open
Phenylketonuria (PKU) is an inheritable metabolic disorder that results in the aberrant accumulation of the amino acid phenylalanine (Phe) which, if untreated, leads to a spectrum of effects such as intellectual disability, seizures, and s…
View article: Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy Open
A late-onset Pompe disease patient developed high sustained antibody titers (HSAT) of ≥51,200 after 11+ years on alglucosidase alfa and previous tolerance. There was a corresponding worsening of motor function and rise in urinary glucose t…
View article: Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses Open
In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU patients since the approval of sapropterin dihydrochloride in 2007. Historically, diet…
View article: Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency Open
We report on a family with ornithine transcarbamylase (OTC) deficiency, an X-linked urea cycle disorder, with variable disease severity and tailored management strategies based on each family member's biochemical profile and clinical prese…
View article: Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire Open
View article: Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics Open