SynthesisArchives of disease in childhood2013
Drug treatment of inborn errors of metabolism: a systematic review.
Synthesis in Archives of disease in childhood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.Behavioural neurology · 2022Pooled it
- Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.Journal of inherited metabolic disease · 2026Article
- Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies.Biology · 2026Review
- Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation.World journal of transplantation · 2026Review
- Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism.JIMD reports · 2025Article
- Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.Molecules (Basel, Switzerland) · 2022Review
- Nonketotic Hyperglycinemia: Insight into Current Therapies.Journal of clinical medicine · 2022Review
- Developments in evidence creation for treatments of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Review
- Advances in drug therapy for mitochondrial diseases.Annals of translational medicine · 2020Review
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.Frontiers in neurology · 2019Article
- Therapies for mitochondrial diseases and current clinical trials.Molecular genetics and metabolism · 2017Review
- Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.Journal of pediatric genetics · 2016Article
- Oxidative stress parameters of Gaucher disease type I patients.Molecular genetics and metabolism reports · 2015Article
- Expression, purification, and characterization of mouse glycine N-acyltransferase in Escherichia coli.Protein expression and purification · 2014Article
- Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.Metabolic brain disease · 2014Article
- An Introduction to Pharmacotherapy for Inborn Errors of Metabolism.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAGReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe treatment of inborn errors of metabolism (IEM) has seen significant advances over the last decade. Many medicines have been developed and the survival rates of some patients with IEM have improved. Dosages of drugs used for the treatment of various IEM can be obtained from a range of sources but tend to vary among these sources. Moreover, the published dosages are not usually supported by the level of existing evidence, and they are commonly based on personal experience.
methodsA literature search was conducted to identify key material published in English in relation to the dosages of medicines used for specific IEM. Textbooks, peer reviewed articles, papers and other journal items were identified. The PubMed and Embase databases were searched for material published since 1947 and 1974, respectively. The medications found and their respective dosages were graded according to their level of evidence, using the grading system of the Oxford Centre for Evidence-Based Medicine.
results83 medicines used in various IEM were identified. The dosages of 17 medications (21%) had grade 1 level of evidence, 61 (74%) had grade 4, two medications were in level 2 and 3 respectively, and three had grade 5.
conclusionsTo the best of our knowledge, this is the first review to address this matter and the authors hope that it will serve as a quickly accessible reference for medications used in this important clinical field.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.