Estimating Correlations Between Clinical Trial Outcomes Using Generalised Estimating Equations
Oxford Bulletin of Economics and Statistics, Volume 88, Issue 3, Page 553-567, June 2026.ABSTRACT Accurately estimating the correlations among clinical trial outcomes is crucial for managing the risk of biopharmaceutical investment portfolios. We propose a novel algorithm for estimating correlations in large clinical trial datasets using a generalised estimating equations (GEE) framework.
Yuehao Dai +4 more
wiley +1 more source
Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]
SSRN Electronic Journal, 2019 Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation Sequencing (NGS). Diet therapy, Large Neutral Amino Acids (LNAA), and Specific Nutrient Combination (SNC) can help alleviate people ...
openaire +1 more source
A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ +8 more
wiley +1 more source
The effect of glycomacropeptide-based foods upon blood phenylalanine control in adults and children with phenylketonuria [PDF]
, 2018 Conventional treatment for phenylketonuria restricts dietary phenylalanine to ‘control’ plasma phenylalanine concentrations. Its widespread adoption has largely eradicated the severe neurocognitive defects that previously characterised phenylketonuria ...
Thomson, Roderick
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Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II +25 more
wiley +1 more source
Lanches salgados para adolescentes portadores de fenilcetonúria [PDF]
, 2015 Monografia (graduação)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Nutrição, 2015.A dieta extremamente restrita da fenilcetonúria deve ser seguida ao longo de toda a vida.
Prado, Mariana
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¿Qué debe saber el pediatra de las hiperfenilalaninemias? [PDF]
, 2015 ResumenLas hiperfenilalaninemias se definen por un nivel sanguíneo de fenilalanina sobre 2mg/dl. La principal causa es una mutación en el gen que codifica la fenilalanina hidroxilasa que cataliza la reacción que transforma la fenilalanina en tirosina ...
Arias, Carolina +8 more
core +1 more source
Genetic test evaluation: information needs of clinicians, policy makers, and the public [PDF]
Review article co-authored by the Public Health Genomics Branch. Standardized formats are needed to summarize what is known and not known about new genetic tests.
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Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Phenylketonuria (PKU) is caused by defective catabolism of phenylalanine (Phe), resulting in Phe accumulation and subsequent neurocognitive impairment. This retrospective study used a large United States claims database linked to laboratory records (6/2018–05/2023) to compare comorbidities, healthcare resource utilization, and healthcare costs
Nicola Longo +9 more
wiley +1 more source
A rationale for the use of aspartame as a sugar substitute in the possible reduction of dental caries [PDF]
, 1989 Call number: LD2668 .R4 ASI 1989 M37Master of ScienceAnimal Sciences and ...
Marrero, Salvador.
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