Brown-Vialetto-Van Laere syndrome

P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations
Ceren Ç&imath;ral&imath;, Hacer Ergin, Özmert MA Özdemir, Uluç Yis, Mert Karakaya, Janine Altmüller, Peter Nürnberg, Brunhilde Wirth, Selcan Zeynep

Archives of Disease in Childhood Jun 2017, 102 (Suppl 2) A181-A182; DOI: 10.1136/archdischild-2017-313273.473

CLINICAL
- Anaesthesia
  - Other anaesthesia (93)
  - Pain (anaesthesia) (76)
- Cardiovascular medicine
  - Arrhythmias
  - Arrhythmias (96)
  - Cardiomyopathy
  - Cardiomyopathy (49)
  - Congenital heart disease (215)
  - Drugs: cardiovascular system (569)
  - Echocardiography (141)
  - Heart failure (19)
  - Hypertension (403)
  - Ischaemic heart disease (1)
  - Pacing and electrophysiology (14)
  - Valvar diseases (55)
  - Valvar diseases
- Complementary medicine (37)
- Dentistry and oral medicine (162)
- Dermatology (407)
- Diagnostics
  - Clinical diagnostic tests (1232)
  - Radiology (diagnostics) (820)
  - Surgical diagnostic tests (313)
- Drugs and medicines
- Ear, nose and throat/otolaryngology (328)
- Emergency medicine
  - Disaster response (1)
  - Poisoning (183)
  - Resuscitation (160)
  - Trauma (479)
- Endocrinology
  - Adrenal disorders (54)
  - Calcium and bone (85)
  - Diabetes (360)
  - Drugs: endocrine system (130)
  - Lipid disorders (23)
  - Metabolic disorders (828)
  - Pituitary disorders (44)
  - Thyroid disease (99)
- Evidence based practice
  - Changing physician behavior
  - Clinical decision making
  - Clinical prediction rules
  - Critical appraisal literature
  - Effectiveness of care
  - Efficiency of care
  - Equity of care
  - Getting research into practice
  - Guidelines (154)
  - Literature searching
  - Teaching EBM
- Gastroenterology
  - Endoscopy (28)
  - GI bleeding (1)
  - GI bleeding (21)
  - Infection
  - Infection (gastroenterology) (92)
  - Inflammatory bowel disease
    - Crohn's disease (52)
    - Ulcerative colitis (43)
  - Liver disease
  - Liver disease (206)
  - Neurogastroenterology
    - Constipation (70)
    - Diarrhoea (207)
    - Disordered defaecation
    - Disordered visceral sensation
    - Dyspepsia (4)
    - Gastric emptying disorders (13)
    - Irritable bowel syndrome (8)
    - Oesophageal dysmotility (1)
  - Oesophagus
  - Oesophagus (136)
  - Pancreas and biliary tract (303)
  - Pancreatitis (10)
  - Small intestine (3)
  - Small intestine (49)
  - Stomach and duodenum (57)
- Genetics
  - Clinical genetics (56)
  - Cytogenetics (4)
  - Genetic screening / counselling (88)
  - Molecular genetics (121)
- Haematology (incl blood transfusion)
- Immunology (including allergy) (2235)
- Infectious diseases
  - Bone and joint infections (37)
  - Drugs: infectious diseases (1084)
  - Emerging infectious diseases
    - Bird flu (17)
  - Foodborne infections (102)
  - Hepatitis and other GI infections (87)
  - HIV/AIDS (180)
  - Influenza (76)
  - Meningitis (216)
  - Nosocomial infections (4)
  - Otitis (72)
  - Pneumonia (infectious disease) (250)
  - TB and other respiratory infections (707)
  - Travel medicine (119)
  - Tropical medicine (infectious diseases) (140)
  - Urinary tract infections (128)
  - Vaccination / immunisation (382)
- Intensive care
  - Adult intensive care (159)
  - Mechanical ventilation (2)
  - Neonatal intensive care (233)
  - Paediatric intensive care (113)
- Neurology
  - Cerebral palsy (158)
  - Coma and raised intracranial pressure (75)
  - Drugs: CNS (not psychiatric) (558)
  - Epilepsy and seizures (425)
  - Headache (including migraine) (142)
  - Hydrocephalus (30)
  - Infection (neurology) (317)
  - Motor neurone disease (10)
  - Muscle disease (69)
  - Neuroimaging (28)
  - Neurological injury (181)
  - Neuromuscular disease (192)
  - Neurooncology (66)
  - Pain (neurology) (662)
  - Sleep disorders (neurology) (77)
  - Stroke (244)
- Nursing (101)
- Nutrition and metabolism
  - Childhood nutrition (790)
  - Diet (358)
  - Malnutrition (190)
  - Obesity (nutrition) (396)
  - Parenteral / enteral feeding
  - Vitamins and supplements (6)
- Obstetrics and gynaecology
  - Cervical cancer (6)
  - Cervical screening (3)
  - Contraception (34)
  - Domestic violence (25)
  - Family planning (10)
  - Pregnancy (588)
  - Reproductive medicine (1046)
- Oncology (871)
- Ophthalmology
  - Eye Diseases (195)
  - Hereditary eye disease (6)
  - Visual development (5)
- Orthopaedics (2)
- Paediatrics
  - Adolescent health (393)
  - Bilirubin disorders (28)
  - Child abuse (318)
  - Child and adolescent psychiatry (paedatrics) (773)
  - Child health (4376)
  - Childhood nutrition (paediatrics) (442)
  - Congenital disorders (1)
  - Developmental paediatrics (146)
  - Failure to thrive (66)
  - Infant health (857)
  - Infant nutrition (including breastfeeding) (438)
  - Materno-fetal medicine
  - Neonatal and paediatric intensive care (406)
  - Neonatal health (689)
  - Paediatric prescribing
  - Preventative pediatrics
  - Routine care of the full-time infant
  - SIDS (103)
- Palliative care
  - End of life decisions (palliative care) (62)
  - Hospice (136)
- Pathology (265)
- Pharmacology and therapeutics
  - Drug misuse (including addiction)
  - Medicines regulation (89)
  - Toxicology
  - Unwanted effects / adverse reactions (135)
- Pharmacology and therapeutics
- Psychiatry
  - Adjustment disorders (1)
  - Alcohol-related disorders
  - Alcohol-related disorders (15)
  - Anxiety disorders (including OCD and PTSD)
  - Anxiety disorders (including OCD and PTSD) (33)
  - Child and adolescent psychiatry
    - Asperger syndrome (3)
    - Attention-deficit hyperactivity disorder (103)
    - Autism (152)
    - Conduct disorder (11)
    - Pervasive developmental disorder (157)
  - Delirium (2)
  - Drugs misuse (including addiction) (80)
  - Drugs misuse (including addiction)
  - Drugs: psychiatry (88)
  - Eating disorders
    - Anorexia nervosa (24)
    - Bulimia nervosa (4)
  - Impulse control disorders
  - Memory disorders
  - Memory disorders (psychiatry) (54)
  - Mood disorders (including depression)
  - Mood disorders (including depression) (45)
  - Personality disorders (13)
  - Personality disorders
  - Psychotherapy
  - Psychotherapy (6)
  - Psychotic disorders (incl schizophrenia)
  - Psychotic disorders (incl schizophrenia) (14)
  - Sexual and gender disorders (6)
  - Sexual and gender disorders
  - Sleep disorders
  - Sleep disorders (67)
  - Somatoform disorders (3)
  - Somatoform disorders
  - Suicide (psychiatry) (24)
- Radiology (1057)
- Rehabilitation medicine
  - Disability (322)
  - Other rehabilitative therapies (13)
  - Physiotherapy (114)
- Renal medicine (289)
- Respiratory medicine
  - Airway biology (251)
  - Asthma (407)
  - Bronchiolitis (138)
  - Bronchitis (148)
  - Bronchopulmonary dysplasia (75)
  - Cystic fibrosis (207)
  - Drugs: respiratory system (124)
  - Interstitial lung disease (24)
  - Mechanical ventilation (133)
  - Pneumonia (respiratory medicine) (231)
  - Sleep disorders (respiratory medicine) (77)
  - Tobacco related disease (1)
  - Tuberculosis (19)
- Rheumatology (583)
- Rheumatology
- Sexual health (409)
- Sports and exercise medicine
  - Conditions
  - Drugs in sport / doping control
  - Medical evaluation
  - Orthopaedic manipulation
  - Physical injuries
  - Physiotherapy (56)
  - Procedures
  - Sports
    - Basketball
    - Boxing
    - Cycling (6)
    - Football (soccer) (3)
    - Golf (1)
    - Gymnastics (2)
    - Ice hockey
    - Kayaking
    - Martial arts (2)
    - Rugby
    - Running
    - Snow sports
    - Squash
    - Triathalons
    - Volleyball
  - Sudden death in sport
- Surgery (334)
- Urology (486)
NON-CLINICAL
- Academic medicine
- Communication (5)
- Epidemiology
  - Clinical trials (epidemiology) (535)
  - Epidemiologic studies
  - Epidemiologic studies (2108)
  - Population trends (1)
  - Screening (epidemiology) (634)
  - Survey techniques
  - Therapeutic trials (10)
  - Time-to-event methods
- Ethics
  - Artificial and donated transplantation (162)
  - Assisted dying (7)
  - Bioethics (7)
  - Clinical ethics (6)
  - Codes of professional ethics (5)
  - Competing interests (ethics) (215)
  - Confidentiality (27)
  - Drug issues
  - End of life decisions (ethics) (62)
  - Ethics of abortion (12)
  - Ethics of contraception
  - Ethics of reproduction (26)
  - Experiments in vivo (2)
  - Informed consent (69)
  - International / political dimensions of biology and medicine
  - Research and publication ethics (132)
  - Sexuality / gender
  - The neurosciences and mental therapies
- Ethnic studies
- Health economics (85)
- Health informatics (57)
- Health policy (217)
- Health service research (187)
- Healthcare improvement and patient safety
- Journalology (278)
- Legal and forensic medicine (110)
- Medical careers
  - Continuous professional development (3)
  - Getting and changing jobs (including job descriptions and contracts)
  - Professional conduct and regulation (4)
  - Research
  - Teaching
- Medical education
  - History taking and the physical examination
  - Postgraduate (8)
  - Undergraduate (87)
- Medical humanities (76)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety (115)
  - Quality improvement (94)
- Occupational and environmental medicine
  - Workers and industries at risk
- Occupational and environmental medicine (151)
- Patients (312)
- Public health
  - Abuse (child, partner, elder) (123)
  - Accidents
  - Air pollution (15)
  - Alcohol
  - Drug misuse
  - Environmental issues (36)
  - Health education (646)
  - Health of indigenous peoples
  - Health promotion (711)
  - Homicide (23)
  - Housing and health (7)
  - Human rights (35)
  - Infection control
  - Injury (482)
  - Medical consequences of conflict
  - Migration and health
  - Obesity (public health) (396)
  - Physical activity
  - Screening (public health) (633)
  - Sexual health (public health) (3)
  - Smoking (167)
  - Social conditions and disease (2)
  - Suicide (public health) (24)
  - Unemployment and health
  - Urban health (3)
  - Vaccination programs (34)
  - Violence (other)
  - Violence against women (25)
- Smoking and tobacco (167)
- Sociology (7)
- Statistics and research methods
  - Randomized controlled trials
  - Systematic reviews (incl meta-analyses)
Special collections
- ADC Archimedes (306)
- ADC Book reviews (154)
- ADC Drug Therapy (155)
- ADC Global child health (91)
- Editor's choice (148)
- Guidelines, Recommendations and Consensus Statements
- Open access (402)
- Press releases (103)
- Quality Improvement Reports

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Brown-Vialetto-Van Laere syndrome