Page 97 - MemoriaCIBER2019-ESP

CIBERER 97
Guias clínicas
• An overview of lipodystrophy and the role of the complement system.
• Consensus definition and essential reporting parameters of selective fetal growth restriction in twin pregnancy: a Delphi procedure .
• Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
• Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.
• Diagnosis and treatment of basal cell carcinoma: European consensus-based interdisciplinary guidelines.
• Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
• Facial paralysis: Clinical practice guideline of the Spanish Society of Otolaryngology.
• International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glyco- sylation: Diagnosis, treatment and follow up.
• International Consensus on the Use of Genetics in the Management of Hereditary Angioedema.
• Management of Adult Patients with Primary Immune Thrombocytopenia (ITP) in Clinical Practice: A Consensus Approach of the Spanish ITP Expert Group.
• Nephritic Factors: An Overview of Classification, Diagnostic Tools and Clinical Associations.
• Newborn screening for homocystinurias: Recent recommendations versus current practice.
• Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.
• Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials.
• Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision.