Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
Published 2012 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume 15, Issue 6, Pages 415-422
Publisher
Springer Nature
Online
2012-12-07
DOI
10.1038/gim.2012.153
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Optimising growth in phenylketonuria: Current state of the clinical evidence base
- (2011) Katharina Dokoupil et al. CLINICAL NUTRITION
- Phenylalanine hydroxylase deficiency
- (2011) John J. Mitchell et al. GENETICS IN MEDICINE
- A framework for applying unfamiliar trial designs in studies of rare diseases
- (2011) Samir Gupta et al. JOURNAL OF CLINICAL EPIDEMIOLOGY
- Mild hyperphenylalaninemia: to treat or not to treat
- (2011) Francjan J. van Spronsen JOURNAL OF INHERITED METABOLIC DISEASE
- Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians
- (2011) Beth K. Potter et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review
- (2011) Marleen H. van der Linden et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects
- (2011) Ina Knerr et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Diagnosis and management of glutaric aciduria type I – revised recommendations
- (2011) Stefan Kölker et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Long-term Adaptive Functioning Outcomes of Children With Inherited Metabolic and Genetic Diseases Treated With Hematopoietic Stem Cell Transplantation in a Single Large Pediatric Center
- (2011) Adam Gassas et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Non-PKU mild hyperphenylalaninemia (MHP) — The dilemma
- (2011) W.B. Hanley MOLECULAR GENETICS AND METABOLISM
- Thoroughly modern medicine
- (2011) Georgianne L. Arnold et al. MOLECULAR GENETICS AND METABOLISM
- Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study
- (2011) Barbara K. Burton et al. MOLECULAR GENETICS AND METABOLISM
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
- (2011) Maurizio Scarpa et al. Orphanet Journal of Rare Diseases
- Living donor liver transplantation for ornithine transcarbamylase deficiency
- (2011) T. Wakiya et al. PEDIATRIC TRANSPLANTATION
- The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup
- (2010) Susan A. Berry et al. GENETICS IN MEDICINE
- Individual (N-of-1) trials can be combined to give population comparative treatment effect estimates: methodologic considerations
- (2010) Deborah R. Zucker et al. JOURNAL OF CLINICAL EPIDEMIOLOGY
- Pathophysiology of fatty acid oxidation disorders
- (2010) M. J. Bennett JOURNAL OF INHERITED METABOLIC DISEASE
- Fatty acid oxidation disorders: outcome and long-term prognosis
- (2010) Bridget Wilcken JOURNAL OF INHERITED METABOLIC DISEASE
- Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
- (2010) Ute Spiekerkoetter JOURNAL OF INHERITED METABOLIC DISEASE
- Current issues regarding treatment of mitochondrial fatty acid oxidation disorders
- (2010) Ute Spiekerkoetter et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Phenylketonuria
- (2010) Nenad Blau et al. LANCET
- The International LAM Registry: A Component of an Innovative Web-Based Clinician, Researcher, and Patient-Driven Rare Disease Research Platform
- (2010) Michael Nurok et al. Lymphatic Research and Biology
- Practice Based Evidence
- (2010) Susan D. Horn et al. MEDICAL CARE
- New insights in nutritional management and amino acid supplementation in urea cycle disorders
- (2010) Fernando Scaglia MOLECULAR GENETICS AND METABOLISM
- Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence
- (2010) G.M. Enns et al. MOLECULAR GENETICS AND METABOLISM
- Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects
- (2010) Jochen Meyburg et al. MOLECULAR GENETICS AND METABOLISM
- Current concepts in the pathogenesis of urea cycle disorders
- (2010) Olivier Braissant MOLECULAR GENETICS AND METABOLISM
- Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
- (2010) Jennifer Seminara et al. MOLECULAR GENETICS AND METABOLISM
- Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series
- (2010) D. A. Shellmer et al. PEDIATRIC TRANSPLANTATION
- Patient-Centered Outcomes Research Institute: The Intersection of Science and Health Care
- (2010) C. Clancy et al. Science Translational Medicine
- Assessing and reporting heterogeneity in treatment effects in clinical trials: a proposal
- (2010) David M Kent et al. Trials
- Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
- (2009) U. Spiekerkoetter et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Guidelines for the Management of Mucopolysaccharidosis Type I
- (2009) Ana Maria Martins et al. JOURNAL OF PEDIATRICS
- Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study
- (2009) Friedrich K. Trefz et al. JOURNAL OF PEDIATRICS
- An Ethical and Policy Analysis of Elective Transplantation for Metabolic Conditions Diagnosed by Newborn Screening
- (2009) Lainie Friedman Ross JOURNAL OF PEDIATRICS
- Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
- (2009) Nenad Blau et al. MOLECULAR GENETICS AND METABOLISM
- A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
- (2009) Georgianne L. Arnold et al. MOLECULAR GENETICS AND METABOLISM
- Outcomes beyond phenylalanine: An international perspective☆
- (2009) Francois Feillet et al. MOLECULAR GENETICS AND METABOLISM
- Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
- (2009) Georgianne L. Arnold et al. MOLECULAR GENETICS AND METABOLISM
- Classical maple syrup urine disease and brain development: Principles of management and formula design
- (2009) Kevin A. Strauss et al. MOLECULAR GENETICS AND METABOLISM
- Clinical trials: Curing a critical deficiency in metabolic medicine
- (2009) Jerry Vockley et al. MOLECULAR GENETICS AND METABOLISM
- Psychosocial aspects of PKU: Hidden disabilities – A review☆
- (2009) J.K. Gentile et al. MOLECULAR GENETICS AND METABOLISM
- Psychiatric symptoms and disorders in phenylketonuria☆
- (2009) V.L. Brumm et al. MOLECULAR GENETICS AND METABOLISM
- Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
- (2009) B. Wilcken et al. PEDIATRICS
- Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
- (2008) Phillip Lee et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation
- (2008) Mieke Aldenhoven et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- The Triple Aim: Care, Health, And Cost
- (2008) Donald M. Berwick et al. HEALTH AFFAIRS
- New Standards and Enhanced Utility for Family Health History Information in the Electronic Health Record: An Update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup
- (2008) W. G. Feero et al. JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
- Why rare diseases are an important medical and social issue
- (2008) Arrigo Schieppati et al. LANCET
- A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism
- (2008) Philippe M. Campeau et al. MOLECULAR GENETICS AND METABOLISM
- Clinical research for rare disease: Opportunities, challenges, and solutions
- (2008) Robert C. Griggs et al. MOLECULAR GENETICS AND METABOLISM
- Adaptive design methods in clinical trials – a review
- (2008) Shein-Chung Chow et al. Orphanet Journal of Rare Diseases
- Mucopolysaccharidosis I: Management and Treatment Guidelines
- (2008) J. Muenzer et al. PEDIATRICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started