Published protocols and reviews

Status	Stage
New Updated	Protocol Review

CYSTIC FIBROSIS (113)
- DIAGNOSIS (2)
  - PULMONARY EXACERBATIONS (0)
  - SCREENING (2)
    ANTENATAL (0)
    CF-RELATED DIABETES (1)
    Continuous glucose monitoring systems for the diagnosis of cystic fibrosis-related diabetes
    NEONATAL (1)
    Newborn screening for cystic fibrosis
- TREATMENT (111)
  - ANTI-INFLAMMATORY & BRONCHODILATOR THERAPY (5)
    ANTI-INFLAMMATORY THERAPY (3)
    NON-STEROIDAL (1)
    Oral non-steroidal anti-inflammatory drug therapy for lung disease in cystic fibrosis
    STEROIDAL (2)
    Inhaled corticosteroids for cystic fibrosis
    Oral steroids for long-term use in cystic fibrosis
    BRONCHODILATOR THERAPY (2)
    Long-acting inhaled bronchodilators for cystic fibrosis
    Short-acting inhaled bronchodilators for cystic fibrosis
    OTHER (0)
  - COMPLICATIONS OF CYSTIC FIBROSIS (14)
    ARTHRITIS (2)
    Anti-inflammatory drugs and analgesics for managing symptoms in people with cystic fibrosis-related arthritis
    Disease modifying anti-rheumatic drugs in people with cystic fibrosis-related arthritis
    CF-RELATED BONE DISEASE (1)
    Bisphosphonates for osteoporosis in people with cystic fibrosis
    CF-RELATED DIABETES (3)
    Continuous glucose monitoring systems for monitoring cystic fibrosis-related diabetes
    Dietary interventions for managing glucose abnormalities in people with cystic fibrosis
    Drug treatments for managing cystic fibrosis-related diabetes
    DYSPNOEA (1)
    Palliative drug treatments for breathlessness in cystic fibrosis
    LIVER DISEASE (2)
    Interventions for preventing and managing advanced liver disease in cystic fibrosis
    Ursodeoxycholic acid for cystic fibrosis-related liver disease
    NASAL POLYPS (2)
    Surgery for nasal polyposis in cystic fibrosis
    Topical nasal steroids for treating nasal polyposis in people with cystic fibrosis
    PNEUMOTHORAX (1)
    Chemical pleurodesis versus surgical intervention for persistent and recurrent pneumothoraces in cystic fibrosis
    PULMONARY HYPERTENSION (0)
    RHINOSINUSITIS (1)
    Medical interventions for chronic rhinosinusitis in cystic fibrosis
    TRANSPLANTATION (1)
    Immunosuppressive drug therapy for preventing rejection following lung transplantation in cystic fibrosis
  - CORRECTING THE BASIC DEFECT IN CF (11)
    GENE THERAPY (4)
    CORRECTION OF THE MOLECULAR DEFECT (3)
    Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis
    Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del)
    Potentiators (specific therapies for class III and IV mutations) for cystic fibrosis
    REPLACEMENT OF DEFECTIVE CFTR GENE (1)
    Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease
    DRUGS THAT IMPROVE CLEARANCE OF AIRWAY SECRETIONS (7)
    DECREASE IN MUCUS PRODUCTION (0)
    INCREASE IN AIRWAY SURFACE LIQUID VOLUME (4)
    Sodium channel blockers for cystic fibrosis
    Nebulised hypertonic saline for cystic fibrosis
    Inhaled mannitol for cystic fibrosis
    Timing of hypertonic saline inhalation for cystic fibrosis
    REDUCTION IN STICKINESS OF SPUTUM AND MUCUS (MUCOLYTICS) (3)
    Nebulized and oral thiol derivatives for pulmonary disease in cystic fibrosis
    Dornase alfa for cystic fibrosis
    Timing of dornase alfa inhalation for cystic fibrosis
  - DEVICES FOR DELIVERING DRUG THERAPY (4)
    AEROSOL DELIVERY (2)
    NEBULISERS (2)
    Digital technology for monitoring adherence to inhaled therapies in people with cystic fibrosis
    Nebuliser systems for drug delivery in cystic fibrosis
    INTRAVENOUS DELIVERY (2)
    CATHETER (1)
    Percutaneous lines for delivering intravenous antibiotics in people with cystic fibrosis
    IMPLANTABLE DEVICES (1)
    Totally implantable vascular access devices for cystic fibrosis
  - GASTROINTESTINAL & NUTRITIONAL (17)
    GASTROINTESTINAL (4)
    ANTACIDS (1)
    Drug therapies for reducing gastric acidity in people with cystic fibrosis
    ANTI-REFLUX THERAPY (0)
    GASTRO-INTESTINAL OBSTRUCTION (2)
    Interventions for treating distal intestinal obstruction syndrome (DIOS) in cystic fibrosis
    Interventions for preventing distal intestinal obstruction syndrome (DIOS) in cystic fibrosis
    PROBIOTICS AND PREBIOTICS (1)
    Probiotics for people with cystic fibrosis
    NUTRITIONAL (11)
    ANABOLIC STEROIDS (0)
    APPETITE STIMULANTS (1)
    Appetite stimulants for people with cystic fibrosis
    BEHAVIOURAL THERAPIES (0)
    DIET (0)
    DIETARY SUPPLEMENTS (3)
    Antioxidant supplementation for lung disease in cystic fibrosis
    Omega-3 fatty acid supplementation for cystic fibrosis
    Oral calorie supplements for cystic fibrosis
    FEEDING THERAPIES (1)
    Enteral tube feeding for cystic fibrosis
    TREATMENT OF GROWTH FAILURE (1)
    Recombinant growth hormone therapy for cystic fibrosis in children and young adults
    VITAMIN SUPPLEMENTS (5)
    Antioxidant supplementation for lung disease in cystic fibrosis
    Vitamin A and beta (β)-carotene supplementation for cystic fibrosis
    Vitamin D supplementation for cystic fibrosis
    Vitamin E supplementation in people with cystic fibrosis
    Vitamin K supplementation for cystic fibrosis
    PANCREATIC ENZYME THERAPY (2)
    Timing of pancreatic enzyme replacement therapy (PERT) in cystic fibrosis
    Pancreatic enzyme replacement therapy for people with cystic fibrosis
  - MACROLIDES (1)
    Macrolide antibiotics (including azithromycin) for cystic fibrosis
  - MENTAL HEALTH (8)
    CREATIVE THERAPIES (1)
    Psychological interventions for individuals with cystic fibrosis and their families
    FAMILY/COMMUNITY-BASED SUPPORT PROGRAMS (1)
    Psychological interventions for individuals with cystic fibrosis and their families
    MOTIVATIONAL INTERVIEWING (2)
    Psychological interventions for individuals with cystic fibrosis and their families
    Interventions for improving adherence to airway clearance treatment and exercise in people with cystic fibrosis
    PATIENT EDUCATION (2)
    Interventions for promoting participation in shared decision-making for children and adolescents with cystic fibrosis
    Self-management education for cystic fibrosis
    PHARMACOLOGICAL INTERVENTIONS (0)
    PSYCHOLOGICAL COUNSELLING (2)
    Psychological interventions for improving adherence to inhaled therapies in people with cystic fibrosis
    Psychological interventions for individuals with cystic fibrosis and their families
  - OXYGEN & VENTILATORY SUPPORT (2)
    OXYGEN THERAPY (1)
    Oxygen therapy for cystic fibrosis
    VENTILATORY SUPPORT (1)
    Non-invasive ventilation for cystic fibrosis
  - PHYSIOTHERAPY & EXERCISE (15)
    EXERCISE (7)
    Digital technology for delivering and monitoring exercise programs for people with cystic fibrosis
    Exercise versus airway clearance techniques for people with cystic fibrosis
    Physical activity and exercise training in cystic fibrosis
    Physical therapies for postural abnormalities in people with cystic fibrosis
    Interventions for promoting physical activity in people with cystic fibrosis
    Singing as an adjunct therapy for children and adults with cystic fibrosis
    Respiratory muscle training for cystic fibrosis
    PHYSIOTHERAPY (8)
    AIRWAY CLEARANCE TECHNIQUES (8)
    Active cycle of breathing technique for cystic fibrosis
    Airway clearance techniques compared to no airway clearance techniques for cystic fibrosis
    Airway clearance techniques for cystic fibrosis: an overview of Cochrane systematic reviews
    Conventional chest physiotherapy compared to other airway clearance techniques for cystic fibrosis
    Standard (head-down tilt) versus modified (without head-down tilt) postural drainage in infants and young children with cystic fibrosis
    Autogenic drainage for airway clearance in cystic fibrosis
    Oscillating devices for airway clearance in people with cystic fibrosis
    Positive expiratory pressure physiotherapy for airway clearance in people with cystic fibrosis
  - PULMONARY INFECTION (34)
    BURKHOLDERIA CEPACIA (3)
    ACUTE THERAPY (PULMONARY EXACERBATIONS) (1)
    Antibiotic treatment for complex in people with cystic fibrosis experiencing a pulmonary exacerbation
    CHRONIC THERAPY (1)
    Antibiotic therapy for chronic infection with <I>Burkholderia cepacia</I> complex in people with cystic fibrosis
    ERADICATION (1)
    Eradication therapy for complex in people with cystic fibrosis
    FUNGAL INFECTION (2)
    ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS (2)
    Antifungal therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis
    Anti-IgE therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis
    GENERAL (0)
    GENERAL (5)
    Antibiotic adjuvant therapy for pulmonary infection in cystic fibrosis
    Digital technology for early identification of exacerbations in people with cystic fibrosis
    Strategies to prevent kidney injury from antibiotics in people with cystic fibrosis
    Intravenous antibiotics for pulmonary exacerbations in people with cystic fibrosis
    Bronchoscopy-guided antimicrobial therapy for cystic fibrosis
    HAEMOPHILUS INFLUENZAE (0)
    NON-TUBERCULOUS MYCOBACTERIA (1)
    ACUTE THERAPY (PULMONARY EXACERBATIONS) (1)
    Antibiotic treatment for nontuberculous mycobacteria lung infection in people with cystic fibrosis
    PSEUDOMONAS AERUGINOSA (14)
    ACUTE THERAPY (PULMONARY EXACERBATIONS) (9)
    Single versus combination intravenous anti-pseudomonal antibiotic therapy for people with cystic fibrosis
    Elective versus symptomatic intravenous antibiotic therapy for cystic fibrosis
    Once-daily versus multiple-daily dosing with intravenous aminoglycosides for cystic fibrosis
    Inhaled antibiotics for pulmonary exacerbations in cystic fibrosis
    Home versus hospital intravenous antibiotic therapy for cystic fibrosis
    Duration of intravenous antibiotic therapy in people with cystic fibrosis
    Oral anti-pseudomonal antibiotics for cystic fibrosis
    Standard versus biofilm antimicrobial susceptibility testing to guide antibiotic therapy in cystic fibrosis
    Combination antimicrobial susceptibility testing for acute exacerbations in chronic infection of Pseudomonas aeruginosa in cystic fibrosis
    ERADICATION THERAPY (1)
    Antibiotic strategies for eradicating Pseudomonas aeruginosa in people with cystic fibrosis
    MAINTENANCE THERAPY (2)
    Inhaled anti-pseudomonal antibiotics for long-term therapy in cystic fibrosis
    Oral anti-pseudomonal antibiotics for cystic fibrosis
    PREVENTATIVE THERAPY (2)
    Treatments for preventing recurrence of infection with in people with cystic fibrosis
    Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis
    STAPHYLOCOCCUS AUREUS (3)
    ACUTE THERAPY (PULMONARY EXACERBATIONS) (0)
    ERADICATION THERAPY (1)
    Interventions for the eradication of meticillin-resistant Staphylococcus aureus (MRSA) in people with cystic fibrosis
    MAINTENANCE THERAPY (1)
    Treatment for chronic methicillin-sensitive pulmonary infection in people with cystic fibrosis
    PREVENTATIVE THERAPY (1)
    Prophylactic anti-staphylococcal antibiotics for cystic fibrosis
    STENOTROPHOMONAS MALTOPHILIA (2)
    ACUTE THERAPY (PULMONARY EXACERBATIONS) (1)
    Antibiotic treatment for Stenotrophomonas maltophilia in people with cystic fibrosis
    MAINTENANCE THERAPY (1)
    Antibiotic treatment for Stenotrophomonas maltophilia in people with cystic fibrosis
    VIRAL INFECTION (4)
    INFLUENZA (2)
    Neuraminidase inhibitors for the treatment of influenza infection in people with cystic fibrosis
    Vaccines for preventing influenza in people with cystic fibrosis
    PNEUMOCOCCAL INFECTION (1)
    Pneumococcal vaccines for cystic fibrosis
    RESPIRATORY SYNCYTIAL VIRUS (RSV) (1)
    Palivizumab for prophylaxis against respiratory syncytial virus infection in children with cystic fibrosis
COAGULOPATHIES (20)
- COAGULOPATHIES IN GENERAL (4)
  - DIAGNOSIS (0)
  - TREATMENT (4)
    Antifibrinolytic therapy for preventing oral bleeding in people on anticoagulants undergoing minor oral surgery or dental extractions
    Antifibrinolytic therapy for preventing oral bleeding in patients with haemophilia or Von Willebrand disease undergoing minor oral surgery or dental extractions
    Non-surgical interventions for treating heavy menstrual bleeding (menorrhagia) in women with bleeding disorders
    Maternal and foetal outcomes following natural vaginal versus caesarean section (c-section) delivery in women with bleeding disorders and carriers
- HAEMOPHILIA (16)
  - DIAGNOSIS (0)
  - TREATMENT (16)
    Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders
    Desmopressin acetate (DDAVP) for preventing and treating bleeding in people with mild or moderate haemophilia A
    Exercise for haemophilia
    Gene therapy for haemophilia
    Immune tolerance induction for treating inhibitors in people with congenital haemophilia A or B
    Treatment for preventing bleeding in people with haemophilia or other congenital bleeding disorders undergoing surgery
    Psychological interventions for people with hemophilia
    Recombinant factor VIIa concentrate versus plasma-derived concentrates for treating acute bleeding episodes in people with haemophilia and inhibitors
    Clotting factor concentrates for preventing bleeding and bleeding-related complications in previously treated individuals with haemophilia A or B
    Clotting factor concentrates given to prevent bleeding and bleeding-related complications in people with hemophilia A or B
    Rituximab for eradicating inhibitors in people with acquired haemophilia A
    Rituximab for treating inhibitors in people with inherited severe hemophilia
    Surgery for chronic arthropathy in people with haemophilia
    Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors
    Interventions for treating acute bleeding episodes in people with acquired hemophilia A
    Non-clotting factor therapies for preventing bleeds in people with congenital hemophilia A or B
HAEMOGLOBINOPATHIES (72)
- SICKLE CELL DISEASE (55)
  - DIAGNOSIS (2)
    SCREENING FOR THE DISEASE (2)
    Point-of-care diagnostic tests for sickle cell disease
    Neonatal screening for sickle cell disease
    SCREENING FOR THE EFFECTS OF DISEASE (0)
  - TREATMENT (53)
    ALTERNATIVE HOLISTIC THERAPIES (2)
    Phytomedicines (medicines derived from plants) for sickle cell disease
    Transcutaneous electrical nerve stimulation (TENS) for pain management in sickle cell disease
    ANALGESIA (5)
    Inhaled nitric oxide for treating pain crises in people with sickle cell disease
    Low-molecular-weight heparins for managing vaso-occlusive crises in people with sickle cell disease
    Piracetam for reducing the incidence of painful sickle cell disease crises
    Psychological therapies for sickle cell disease and pain
    Interventions for treating neuropathic pain in people with sickle cell disease
    AUDITORY (0)
    BLOOD (14)
    BLOOD TRANSFUSIONS (6)
    Red blood cell transfusion to treat or prevent complications in sickle cell disease: an overview of Cochrane reviews
    Preoperative blood transfusions for sickle cell disease
    Blood transfusions for treating acute chest syndrome in people with sickle cell disease
    Interventions for chronic kidney disease in people with sickle cell disease
    Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease
    Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease
    HAEMOGLOBIN REGULATION (2)
    Hydroxyurea (hydroxycarbamide) for sickle cell disease
    Zinc supplements for treating thalassaemia and sickle cell disease
    IRON CHELATION (2)
    Deferasirox for managing transfusional iron overload in people with sickle cell disease
    Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia
    OTHER (1)
    Interventions for preventing silent cerebral infarcts in people with sickle cell disease
    RED BLOOD CELL HYDRATION (3)
    Drugs for preventing red blood cell dehydration in people with sickle cell disease
    Piracetam for reducing the incidence of painful sickle cell disease crises
    Fluid replacement therapy for acute episodes of pain in people with sickle cell disease
    CARDIO (1)
    Interventions for treating pulmonary hypertension in people with sickle cell disease or thalassaemia
    CENTRAL NERVOUS SYSTEM (0)
    CURATIVE THERAPY (2)
    Gene therapy for sickle cell disease
    Hematopoietic stem cell transplantation for people with sickle cell disease
    DENTAL (1)
    Treatment of dental complications in sickle cell disease
    EYES (1)
    Laser therapy for retinopathy in sickle cell disease
    GENITO-URINARY (1)
    Treatments for priapism in boys and men with sickle cell disease
    LIVER (1)
    Interventions for treating intrahepatic cholestasis in people with sickle cell disease
    NEURO (1)
    Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease
    NUTRITIONAL (5)
    Antioxidant supplementation for sickle cell disease
    Folate supplementation in people with sickle cell disease
    Magnesium for treating sickle cell disease
    Vitamin B supplementation for sickle cell disease
    Vitamin D supplementation for sickle cell disease
    OTHER (1)
    Digital behavioural interventions for people with sickle cell disease
    PSYCHO-SOCIAL THERAPIES (2)
    Interventions for patients and caregivers to improve knowledge of sickle cell disease and recognition of its related complications
    Psychological therapies for sickle cell disease and pain
    RENAL (2)
    Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease
    Interventions for chronic kidney disease in people with sickle cell disease
    RESPIRATORY (10)
    ACUTE (5)
    Antibiotics for treating acute chest syndrome in people with sickle cell disease
    Antibiotics for treating community-acquired pneumonia in people with sickle cell disease
    Blood transfusions for treating acute chest syndrome in people with sickle cell disease
    Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease
    Inhaled nitric oxide for acute chest syndrome in people with sickle cell disease
    CHRONIC (1)
    Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease
    PREVENTION (4)
    Pneumococcal vaccines for sickle cell disease
    Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease
    Conjugate Haemophilus influenzae type b vaccines for sickle cell disease
    Vaccines for preventing invasive salmonella infections in people with sickle cell disease
    SKELETAL (2)
    Antibiotics for treating osteomyelitis in people with sickle cell disease
    Treatment for avascular necrosis of bone in people with sickle cell disease
    SKIN (1)
    Interventions for treating leg ulcers in people with sickle cell disease
    SPLEEN (1)
    Splenectomy versus conservative management for acute sequestration crises in people with sickle cell disease
- THALASSAEMIA (17)
  - DIAGNOSIS (0)
  - TREATMENT (17)
    BLOOD (8)
    BLOOD TRANSFUSIONS (3)
    Hydroxyurea (hydroxycarbamide) for transfusion-dependent β-thalassaemia
    Hydroxyurea for reducing blood transfusion in non-transfusion dependent beta thalassaemias
    Foetal haemoglobin inducers for reducing blood transfusion in non-transfusion-dependent beta-thalassaemias
    HAEMOGLOBIN REGULATION (1)
    Zinc supplements for treating thalassaemia and sickle cell disease
    IRON CHELATION (4)
    Deferasirox for managing iron overload in people with thalassaemia
    Desferrioxamine mesylate for managing transfusional iron overload in people with transfusion-dependent thalassaemia
    Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia
    Oral deferiprone for iron chelation in people with thalassaemia
    CARDIO (2)
    Calcium channel blockers for preventing cardiomyopathy due to iron overload in people with transfusion-dependent beta thalassaemia
    Interventions for treating pulmonary hypertension in people with sickle cell disease or thalassaemia
    CURATIVE THERAPY (1)
    Hematopoietic stem cell transplantation for people with β-thalassaemia
    DENTAL (1)
    Treatment of dental and orthodontic complications in thalassaemia
    GENITO-URINARY (0)
    OTHER (2)
    Growth hormone therapy for people with thalassaemia
    Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia
    PSYCHO-SOCIAL THERAPIES (1)
    Psychological therapies for thalassaemia
    PULMONARY HYPERTENSION (0)
    SKELETAL (1)
    Treatment for osteoporosis in people with beta-thalassaemia
    SPLEEN (1)
    Splenectomy for people with thalassaemia major or intermedia
INBORN ERRORS OF METABOLISM (27)
- ACIDAEMIA (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- ANDERSON-FABRY DISEASE (1)
  - DIAGNOSIS (0)
  - TREATMENT (1)
    Enzyme replacement therapy for Anderson-Fabry disease
- CONGENITAL ADRENAL HYPERPLASIA (1)
  - DIAGNOSIS (0)
  - TREATMENT (1)
    Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia
- FAMILIAL HYPERCHOLESTEROLAEMIA (5)
  - DIAGNOSIS (1)
    Strategies for screening for familial hypercholesterolaemia in primary care and other community settings
  - TREATMENT (4)
    Bile acid sequestrants for primary prevention of ischaemic heart disease in heterozygous familial hypercholesterolaemia
    Dietary interventions (plant sterols, stanols, omega-3 fatty acids, soy protein and dietary fibers) for familial hypercholesterolaemia
    PCSK9 inhibition for primary prevention of ischaemic heart disease in heterozygous familial hypercholesterolaemia
    Statins for children with familial hypercholesterolemia
- GALACTOSAEMIA (1)
  - DIAGNOSIS (1)
    Newborn screening for galactosaemia
  - TREATMENT (0)
- GAUCHER DISEASE (2)
  - DIAGNOSIS (0)
  - TREATMENT (2)
    Hematopoietic stem cell transplantation for Gaucher disease
    Enzyme replacement and substrate reduction therapy for Gaucher disease
- GLUTARIC ACIDURIA (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- GLYCOGEN STORAGE DISEASE TYPE 1B (G6PD) (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- HOMOCYSTINURIA (1)
  - DIAGNOSIS (1)
    Newborn screening for homocystinuria
  - TREATMENT (0)
- HYPERAMMONAEMIA (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- INBORN ERRORS OF METABOLISM IN GENERAL (1)
  - DIAGNOSIS (0)
  - TREATMENT (1)
    Carnitine supplementation for inborn errors of metabolism
- MAPLE SYRUP URINE DISEASE (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- MCAD DEFICIENCY (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- MUCOPOLYSACCHARIDOSES (4)
  - MPS I - HURLER SYNDROME (1)
    DIAGNOSIS (0)
    TREATMENT (1)
    Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I
  - MPS II - HUNTER SYNDROME (1)
    DIAGNOSIS (0)
    TREATMENT (1)
    Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)
  - MPS III - SANFILIPPO SYNDROME (0)
    DIAGNOSIS (0)
    TREATMENT (0)
  - MPS IV - MORQUIO SYNDROME (1)
    DIAGNOSIS (0)
    TREATMENT (1)
    Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)
  - MPS VI - MAROTEAUX-LAMY SYNDROME (1)
    DIAGNOSIS (0)
    TREATMENT (1)
    Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI
  - MPS VII - SLY SYNDROME (0)
    DIAGNOSIS (0)
    TREATMENT (0)
  - MPS IX - NATOWICZ SYNDROME (0)
    DIAGNOSIS (0)
    TREATMENT (0)
- OSTEOGENESIS IMPERFECTA (1)
  - DIAGNOSIS (0)
  - TREATMENT (1)
    Bisphosphonate therapy for osteogenesis imperfecta
- PHENYLKETONURIA (5)
  - DIAGNOSIS (0)
  - TREATMENT (5)
    Tyrosine supplementation for phenylketonuria
    Combined large neutral amino acid supplementation for phenylketonuria (PKU)
    Protein substitute for children and adults with phenylketonuria
    Sapropterin dihydrochloride for phenylketonuria
    Dietary interventions for phenylketonuria
- POMPE'S DISEASE (2)
  - DIAGNOSIS (0)
  - TREATMENT (2)
    Enzyme replacement therapy for infantile-onset Pompe disease
    Enzyme replacement therapy for late-onset Pompe disease
- SMITH-LEMLI-OPITZ SYNDROME (1)
  - DIAGNOSIS (0)
  - TREATMENT (1)
    Statins for Smith-Lemli-Opitz syndrome
- SSADH DEFICIENCY (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- TYROSINAEMIA (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- WILSON'S DISEASE (1)
  - Biomarkers for diagnosis of Wilson's disease
- X-LINKED ADRENOLEUKODYSTROPHY (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
- X-LINKED HYPOPHOSPHATEMIA (1)
  - Recombinant growth hormone therapy for X-linked hypophosphatemia in children
- ZELLWEGER SPECTRUM DISORDER (0)
  - DIAGNOSIS (0)
  - TREATMENT (0)
OTHER TOPICS (10)

What is a Cochrane Review?