Fabry disease

Fabry disease due to D313Y and novel GLA mutations
Konstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis

BMJ Open Oct 2017, 7 (10) e017098; DOI: 10.1136/bmjopen-2017-017098
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)
Hsiang-Yu Lin, Hao-Chuan Liu, Yu-Hsiu Huang, Hsuan-Chieh Liao, Ting-Rong Hsu, Chia-I Shen, Shao-Tzu Li, Cheng-Fang Li, Li-Hong Lee, Pi-Chang Lee, Chun-Kai Huang, Chuan-Chi Chiang, Ching-Yuang Lin, Shuan-Pei Lin, Dau-Ming Niu

BMJ Open Jul 2013, 3 (7) e003146; DOI: 10.1136/bmjopen-2013-003146

CLINICAL
- Anaesthesia
  - Other anaesthesia (2)
  - Pain (anaesthesia)
- Cardiovascular medicine
  - Arrhythmias
  - Cardiomyopathy
  - Congenital heart disease
  - Drugs: cardiovascular system (27)
  - Echocardiography (1)
  - Heart failure
  - Hypertension (19)
  - Interventional cardiology (2)
  - Ischaemic heart disease (16)
  - Pacing and electrophysiology
  - Valvar diseases
  - Venous thromboembolism
- Complementary medicine (3)
- Dentistry and oral medicine (1)
- Dermatology (5)
- Diagnostics
- Drugs and medicines
- Ear, nose and throat/otolaryngology (2)
- Emergency medicine
  - Disaster response
  - Poisoning
  - Resuscitation
  - Trauma (2)
- Endocrinology
  - Adrenal disorders
  - Calcium and bone (1)
  - Diabetes (16)
  - Drugs: endocrine system (6)
  - Lipid disorders (1)
  - Metabolic disorders (17)
  - Pituitary disorders
  - Thyroid disease
- Evidence based practice
  - Changing physician behavior
  - Guidelines (6)
- Gastroenterology
  - Drugs: gastrointestinal system
  - Endoscopy
  - GI bleeding
  - Infection (gastroenterology) (2)
  - Inflammatory bowel disease
  - Liver disease (1)
  - Neurogastroenterology
  - Oesophagus (1)
  - Pancreas and biliary tract (3)
  - Pancreatitis
  - Portal hypertension
  - Small intestine
  - Stomach and duodenum (1)
- General practice / family medicine (19)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling
  - Molecular genetics (6)
- Geriatric medicine (1)
- Haematology (incl blood transfusion)
- Immunology (including allergy) (41)
- Intensive care
- Neurology
- Neurology
  - Brain stem / cerebellum
  - Cerebral palsy
  - Coma and raised intracranial pressure
  - Cranial nerves
  - Dementia (8)
  - Drugs: CNS (not psychiatric) (9)
  - Epilepsy and seizures (2)
  - Headache (including migraine) (1)
  - Hydrocephalus
  - Infection (neurology) (1)
  - Motor neurone disease
  - Movement disorders (other than Parkinsons)
  - Multiple sclerosis (3)
  - Muscle disease (4)
  - Neuroimaging
  - Neurological injury
  - Neuromuscular disease (4)
  - Neurooncology (2)
  - Pain (neurology) (14)
  - Parkinson's disease
  - Peripheral nerve disease
  - Sleep disorders (neurology)
  - Spinal cord
  - Stroke (13)
  - Trauma CNS / PNS
  - Variant Creutzfeld-Jakob Disease (1)
- Nursing (5)
- Nutrition and metabolism
- Obstetrics and gynaecology
  - Abortion
  - Cervical cancer (1)
  - Cervical screening (1)
  - Contraception
  - Domestic violence
  - Drugs: obstetrics and gynaecology
  - Family planning
  - Incontinence
  - Menopause (including HRT) (1)
  - Pregnancy (8)
  - Reproductive medicine (16)
- Oncology
  - Breast cancer (7)
  - Cancer: dermatological (2)
  - Cancer: small intestine
  - Chemotherapy (4)
  - CNS cancer (2)
  - Colon cancer (5)
  - Endocrine cancer
  - Gastric cancer (1)
  - Gene therapy
  - Gynecological cancer (3)
  - Head and neck cancer
  - Hepatic cancer
  - Lung cancer (oncology)
  - Oesophageal cancer
  - Paediatric oncology (2)
  - Pancreatic cancer
  - Prevention (1)
  - Prostate cancer (3)
  - Radiotherapy (1)
  - Respiratory cancer
  - Screening (oncology) (7)
  - Urological cancer (5)
- Ophthalmology (7)
- Paediatrics
  - Adolescent health (3)
  - Bilirubin disorders
  - Child abuse
  - Child and adolescent psychiatry (paedatrics) (3)
  - Child health (16)
  - Childhood nutrition (paediatrics) (3)
  - Congenital disorders
  - Developmental paediatrics
  - Failure to thrive
  - Infant health (3)
  - Infant nutrition (including breastfeeding) (5)
  - Neonatal and paediatric intensive care
  - Neonatal health (2)
  - SIDS
- Palliative care
  - End of life decisions (palliative care) (1)
  - Hospice
  - Pain (palliative care)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology (4)
  - Inflammation (5)
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (4)
  - Medicines regulation (3)
  - Toxicology
  - Unwanted effects / adverse reactions (2)
- Prison medicine
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders
  - Anxiety disorders (including OCD and PTSD)
  - Child and adolescent psychiatry (3)
  - Delirium (1)
  - Drugs misuse (including addiction) (1)
  - Drugs: psychiatry (1)
  - Eating disorders
  - Impulse control disorders (1)
  - Memory disorders (psychiatry) (9)
  - Mood disorders (including depression) (6)
  - Personality disorders
  - Psychiatry of old age (4)
  - Psychotherapy (2)
  - Psychotic disorders (incl schizophrenia) (1)
  - Sexual and gender disorders
  - Sleep disorders
  - Somatoform disorders
  - Suicide (psychiatry)
- Radiology (13)
- Rehabilitation medicine
  - Disability (1)
  - Other rehabilitative therapies (4)
  - Physiotherapy (3)
- Renal medicine
  - Acute renal failure
  - Chronic renal failure
  - Dialysis
  - Fluid electrolyte and acid-base disturbances
  - Nephrotic syndrome
  - Proteinurea
  - Renal transplantation
- Respiratory medicine
  - Airway biology (2)
  - Asthma (3)
  - Bronchiolitis (1)
  - Bronchitis (1)
  - Cystic fibrosis (2)
  - Drugs: respiratory system
  - Interstitial lung disease (1)
  - Lung cancer (respiratory medicine)
  - Lung function
  - Mechanical ventilation
  - Pneumonia (respiratory medicine) (1)
  - Pulmonary embolism
  - Pulmonary emphysema
  - Pulmonary hypertension
  - Sleep disorders (respiratory medicine)
  - Tobacco related disease
  - Tuberculosis
- Rheumatology
  - Ankylosing spondylitis
  - Biological agents (3)
  - Connective tissue disease (4)
  - Degenerative joint disease (14)
  - Drugs: musculoskeletal and joint diseases (7)
  - Fibromyalgia (2)
  - Musculoskeletal syndromes (21)
  - Osteoarthritis (6)
  - Osteoporosis (1)
  - Rheumatoid arthritis (4)
  - Sjogren's syndrome
  - Systemic lupus erythematosus
  - Vascularitis
- Sexual health (9)
- Sports and exercise medicine (4)
- Surgery
  - Breast surgery
  - Cardiothoracic surgery (3)
  - Gastrointestinal surgery (2)
  - General surgery (5)
  - Neurosurgery
  - Oral and maxillofacial surgery
  - Orthopaedic and trauma surgery (1)
  - Otolaryngology / ENT
  - Plastic and reconstructive surgery
  - Surgical oncology (3)
  - Transplantation
  - Urological surgery (6)
  - Vascular surgery (1)
- Urology (2)
NON-CLINICAL
- Communication (2)
- Epidemiology
  - Clinical trials (epidemiology) (27)
  - Epidemiologic studies (96)
  - Population trends
  - Screening (epidemiology) (16)
  - Survey techniques
  - Therapeutic trials
  - Time-to-event methods
- Ethics
  - Artificial and donated transplantation
  - Assisted dying (1)
  - Bioethics
  - Clinical ethics
  - Codes of professional ethics
  - Competing interests (ethics)
  - Confidentiality
  - Drug issues
  - End of life decisions (ethics) (1)
  - Ethics of abortion
  - Ethics of reproduction
  - Experiments in vivo
  - Informed consent (8)
  - Research and publication ethics (16)
  - Sexuality / gender
- Ethnic studies
- Health economics (10)
- Health informatics
  - Information management (3)
  - Internet (8)
  - IT (1)
  - Telemedicine
- Health policy (16)
- Health service research (12)
- Healthcare improvement and patient safety
- Journalology (10)
- Legal and forensic medicine (8)
- Medical careers
  - Continuous professional development
  - Getting and changing jobs (including job descriptions and contracts)
  - Professional conduct and regulation
- Medical education
  - History taking and the physical examination
  - Postgraduate
  - Undergraduate (3)
- Medical humanities (2)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety (4)
  - Quality improvement (1)
- Occupational and environmental medicine
- Patients (5)
- Public health
  - Abuse (child, partner, elder)
  - Air pollution (1)
  - Alcohol
  - Drug misuse (1)
  - Environmental issues (3)
  - Health education (34)
  - Health of indigenous peoples
  - Health promotion (38)
  - Homicide (1)
  - Housing and health
  - Human rights
  - Injury (1)
  - Obesity (public health) (13)
  - Screening (public health) (15)
  - Sexual health (public health)
  - Smoking (20)
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
  - Vaccination programs (3)
  - Violence (other)
  - Violence against women
- Smoking and tobacco (20)
- Sociology
- Statistics and research methods
  - Qualitative research
  - Quantitative research
Special collections
- BMJ Open
  - Addiction (167)
  - Addiction (106)
  - Anaesthesia (106)
  - Cardiovascular medicine (803)
  - Communication (211)
  - Complementary medicine (148)
  - Dentistry and oral medicine (54)
  - Dermatology (63)
  - Diabetes and Endocrinology (418)
  - Diagnostics (215)
  - Ear, nose and throat/otolaryngology (74)
  - Emergency medicine (299)
  - Endocrinology
  - Epidemiology (2152)
  - Ethics (83)
  - Evidence based practice (736)
  - Gastroenterology and hepatology (210)
  - General practice / Family practice (667)
  - Genetics and genomics (111)
  - Geriatric medicine (300)
  - Global health (460)
  - Global health (305)
  - Haematology (incl blood transfusion) (55)
  - Health economics (364)
  - Health economics (217)
  - Health informatics (213)
  - Health policy (673)
  - Health policy (447)
  - Health services research (1498)
  - HIV AIDS (187)
  - Immunology (including allergy) (60)
  - Infectious diseases (580)
  - Intensive care (198)
  - Legal and forensic medicine (16)
  - Medical education and training (277)
  - Medical management (228)
  - Medical publishing and peer review (74)
  - Mental health (717)
  - Mental health (449)
  - Neurology (423)
  - Nursing (135)
  - Nutrition and metabolism (330)
  - Nutrition and metabolism (213)
  - Obgyn (353)
  - Occupational and environmental medicine (288)
  - Oncology (427)
  - Oncology (277)
  - Ophthalmology (107)
  - Paediatrics (643)
  - Palliative care (77)
  - Pathology (41)
  - Patient-centred medicine (474)
  - Pharmacology and therapeutics (448)
  - Pharmacology and therapeutics (340)
  - Public health (2269)
  - Public health (1483)
  - Qualitative research (714)
  - Radiology and imaging (113)
  - Rehabilitation medicine (311)
  - Renal medicine (141)
  - Reproductive medicine (49)
  - Research methods (615)
  - Respiratory medicine (351)
  - Respiratory medicine (241)
  - Rheumatology (168)
  - Sexual health (153)
  - Smoking and tobacco (250)
  - Sociology (107)
  - Sports and exercise medicine (221)
  - Surgery (402)
  - Urology (74)
  - Video abstracts
- Guidelines, Recommendations and Consensus Statements
- Press releases (134)

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Fabry disease