DDIEM - IEM drug database
Tankeu et al., 2023 - Review of published case series, including sign and symptoms, clinical presentation, outcomes.
Wolf, 2022 - Commentary about use of biotin in biotin-responsive disorders.
PCDT, 2018 - Brazilian Public Health system guidelines
Wolf, 2012 - Comprehensive review of practical issues on the diagnosis and management of Biotinidase deficiency
Sanchez et al., 2018 - Study on the use of baricitinib in patients with CANDLE and other interpheronopathies.
Diretrizes Brasileiras - Brazilian public health system guidelines for diagnosis and treatment of Fabry disease
Wanner et al., 2018 - European consensus on therapeutic goals
Ortiz et al., 2018 - Expert consensus on management of adult patients
Germain et al., 2019 - Expert consensus on management of children
Sirrs et al., 2018 - Canadian Protocol
Australian Government - Australian government criteria for initiation and renewal of treatment with agalsidase alfa, agalsidase beta and migalastat.
Généo, 2021 - Treatment protocol of the French Fabry Disease Reference Center.
BIMDG -Emergency Treatment
Boy et al., 2022 - Revised international guidelines on the treatment of type I glutaric aciduria.
Strauss et al., 2020 - It describes the glutaric acidemia treatment strategy used at the Clinic for Special Children in Pennsylvania and discusses aspects of diagnosis and prognosis.
E-IMD - Summary booklet for health professionals on type I glutaric aciduria.
Genereviews - General review on diagnosis and treatment.
Lucia et al., 2021 - Treatment guidelines, including guidance on monitoring in supplementary article material.
BIMDG - Emergency treatment
New England Consortium - Emergency treatment
E-IMD - Concise review on diagnostic principles, treatment and prognosis
Manoli & Venditti, 2016 - Discusses branched-chain (including isovaleric) organic acidurias
Vockley, 2006 - Review on isovaleric acidemia
DDIEM - Lists drugs used in isovaleric acidemia and respective references that support their use.
Rodan et al., 2018 - Emergency treatment, from the Boston Children's Hospital group.
New England Consortium of Metabolic Programs - Emergency Treatment
Southeast Regional Genetics Network / GMDI - Nutritional management guidelines
Strauss et al., 2020 - Clinic for Special Children Guidelines (Strasburg, PA, USA)
Huemer et al., 2016 - E-HOD Guidelines . Includes other remethylation disorders.
Tinker et al., 2021 - Review of treatments currently available and under development
Barcelos et al., 2020 - Evidence-based review of therapies for mitochondrial diseases
Parick et al., 2017 - Consensus on the care of patients with primary mitochondrial diseases
Parick et al., 2014 - Consensus on diagnosis and management
Forny et al., 2021 - European guideline of methylmalonic and propionic acidemia. Includes acute management and long-term follow-up. Review of the original 2014 protocol
Jurecki et al., 2019 - Consensus and evidence-based review on nutritional management.
Genereviews - review
British Inherited Metabolic Group (BIMDG) - Emergency treatment
New England Consortium of Metabolic Programs - Emergency treatment
Southeast Regional Genetics Network / GMDI - Emergency treatment