Subscribe
Log In More

Log in via Institution
Log in via OpenAthens
Log in via RCPCH

Log in using your username and password
For personal accounts OR managers of institutional accounts

Username *

Password *

Forgot your log in details?Register a new account?
Forgot your user name or password?
Basket
Search More

Search for this keyword

Advanced search

Close More
Main menu

Latest content

Current issue

Archive

Authors

Podcasts

About
Subscribe
Log in More

Log in via Institution
Log in via OpenAthens
Log in via RCPCH

Log in using your username and password
For personal accounts OR managers of institutional accounts

Username *

Password *

Forgot your log in details?Register a new account?
Forgot your user name or password?
BMJ Journals More

You are viewing from: Department GEZ-LTA Erasmushogeschool

glucocerebrosidase deficiency

Type 2 Gaucher disease: the collodion baby phenotype revisited
D L Stone, W F Carey, J Christodoulou, D Sillence, P Nelson, M Callahan, N Tayebi, E Sidransky

Archives of Disease in Childhood - Fetal and Neonatal Edition Mar 2000, 82 (2) F163-F166; DOI: 10.1136/fn.82.2.F163

CLINICAL
- Anaesthesia
- Anaesthesia
  - Other anaesthesia (63)
  - Pain (anaesthesia) (57)
- Cardiovascular medicine
- Cardiovascular medicine
  - Arrhythmias
    - Bradyarrhythmias and heart block
    - Tachyarrhythmias
  - Arrhythmias (65)
  - Cardiomyopathy
  - Cardiomyopathy (10)
  - Congenital heart disease (183)
  - Drugs: cardiovascular system (306)
  - Echocardiography (141)
  - Heart failure (4)
  - Hypertension (309)
  - Interventional cardiology
  - Ischaemic heart disease
  - Ischaemic heart disease
  - Pacing and electrophysiology (2)
  - Valvar diseases (30)
  - Valvar diseases
  - Venous thromboembolism
- Complementary medicine
- Dentistry and oral medicine (46)
- Dermatology (61)
- Diagnostics
- Diagnostics
  - Clinical diagnostic tests (822)
  - Radiology (diagnostics) (732)
  - Surgical diagnostic tests (75)
- Drugs and medicines
- Drugs and medicines
  - Cardiovascular system
  - Contraindications and precautions
  - Drug interactions
  - Drug therapy related to surgery
  - Ear, nose and throat
  - Endocrine system
  - Eye
  - Gastrointestinal system
  - General guidance on prescribing
  - Haematology (drugs and medicines)
  - Immunological products and vaccines
  - Infections
  - Malignant disease and immunosuppression
  - Musculoskeletal and joint disorders
  - Neurology (drugs and medicines)
  - Nutrition
  - Obstetrics, gynaecology and fertility
  - Paediatrics (drugs and medicines)
  - Psychiatry (drugs and medicines)
  - Renal system
  - Respiratory system
  - Skin
  - Urinary and genital tract disorders
- Ear, nose and throat/otolaryngology (66)
- Emergency medicine
  - Disaster response
  - Poisoning (12)
  - Resuscitation (198)
  - Trauma (230)
- Emergency medicine
- Endocrinology
- Endocrinology
  - Adrenal disorders (12)
  - Calcium and bone (14)
  - Diabetes (143)
  - Drugs: endocrine system (87)
  - Lipid disorders (10)
  - Metabolic disorders (324)
  - Pituitary disorders (6)
  - Thyroid disease (29)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines (38)
- Evidence based practice
- Gastroenterology
- Gastroenterology
  - Drugs: gastrointestinal system
  - Endoscopy
  - GI bleeding
    - Angiodysplasia
    - Ulcer
  - GI bleeding (4)
  - Infection
    - Campylobacter, Salmonella, Shigella, Escherichia coli
    - Clostridium difficile
    - Gastroenteritis
    - Giardiasis
    - Helicobacter pylori
    - Parastic worms
  - Infection (gastroenterology) (7)
  - Inflammatory bowel disease
    - Crohn's disease
    - Ulcerative colitis
  - Inflammatory bowel disease
  - Liver disease
    - Alcoholic liver disease
    - Cirrhosis
    - Hepatitis B
    - Hepatitis C
    - Hepatitis other
    - Nonalcoholic steatosis
  - Liver disease (35)
  - Neurogastroenterology
  - Neurogastroenterology
    - Chronic intestinal pseudo-obstruction
    - Constipation (4)
    - Diarrhoea (10)
    - Dyspepsia (2)
    - Gastric emptying disorders (6)
    - Irritable bowel syndrome
    - Oesophageal dysmotility
  - Oesophagus
    - Gastro-oesophageal reflux
  - Oesophagus (65)
  - Pancreas and biliary tract (58)
  - Pancreatitis (4)
  - Portal hypertension
  - Small intestine
    - Coeliac disease
    - Gastrointestinal hormones
    - Malabsorption
  - Small intestine (32)
  - Stomach and duodenum (37)
- General practice / family medicine
- Genetics
  - Clinical genetics (13)
  - Cytogenetics (2)
  - Genetic screening / counselling (15)
  - Molecular genetics (31)
- Genetics
- Geriatric medicine
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine)
  - Long term care
  - Psychogeriatrics
- Haematology (incl blood transfusion)
- Immunology (including allergy) (440)
- Infectious diseases
  - Bone and joint infections (4)
  - Drugs: infectious diseases (265)
  - Emerging infectious diseases
    - Bird flu (10)
  - Foodborne infections (7)
  - Hepatitis and other GI infections (18)
  - HIV/AIDS (29)
  - Influenza (11)
  - Meningitis (31)
  - Nosocomial infections
  - Otitis (9)
  - Pneumonia (infectious disease) (51)
  - TB and other respiratory infections (85)
  - Travel medicine (12)
  - Tropical medicine (infectious diseases) (13)
  - Urinary tract infections (10)
  - Vaccination / immunisation (36)
- Infectious diseases
- Intensive care
  - Adult intensive care (62)
  - Mechanical ventilation
  - Neonatal intensive care (311)
  - Paediatric intensive care (9)
- Intensive care (2)
- Neurology
- Neurology
  - Brain stem / cerebellum
  - Cerebral palsy (92)
  - Coma and raised intracranial pressure (9)
  - Cranial nerves
  - Dementia
  - Drugs: CNS (not psychiatric) (219)
  - Epilepsy and seizures (87)
  - Headache (including migraine) (12)
  - Hydrocephalus (22)
  - Infection (neurology) (40)
  - Motor neurone disease (2)
  - Movement disorders (other than Parkinsons)
  - Multiple sclerosis
  - Muscle disease (4)
  - Neuroimaging (20)
  - Neurological injury (82)
  - Neuromuscular disease (9)
  - Neurooncology (4)
  - Pain (neurology) (196)
  - Parkinson's disease
  - Peripheral nerve disease
  - Sleep disorders (neurology) (2)
  - Spinal cord
  - Stroke (116)
  - Trauma CNS / PNS
  - Variant Creutzfeld-Jakob Disease
- Nursing
  - Case management
  - Chronic disease / disability nursing
  - Community nursing / community based care
  - Family nursing
  - Home care nursing
  - Medical-surgical nursing - acute
  - Perioperative care
  - School nursing
  - Tobacco control counselling
- Nursing (54)
- Nutrition and metabolism
- Nutrition and metabolism
  - Childhood nutrition (362)
  - Diet (117)
  - Malnutrition (38)
  - Obesity (nutrition) (118)
  - Vitamins and supplements (1)
- Obstetrics and gynaecology
  - Abortion
  - Cervical cancer (8)
  - Cervical screening (6)
  - Contraception (55)
  - Domestic violence (2)
  - Drugs: obstetrics and gynaecology
  - Family planning (8)
  - Incontinence
  - Menopause (including HRT)
  - Pregnancy (1629)
  - Reproductive medicine (1545)
- Obstetrics and gynaecology (412)
- Oncology
  - Breast cancer
  - Cancer: dermatological
  - Cancer: small intestine
  - Chemotherapy
  - CNS cancer
  - Colon cancer
  - Endocrine cancer
  - Gastric cancer
  - Gene therapy
  - Gynecological cancer
  - Head and neck cancer
  - Hepatic cancer
  - Lung cancer (oncology)
  - Oesophageal cancer
  - Paediatric oncology
  - Pancreatic cancer
  - Prevention
  - Prostate cancer
  - Radiotherapy
  - Respiratory cancer
  - Screening (oncology)
  - Urological cancer
- Oncology (242)
- Ophthalmology (153)
- Ophthalmology
  - Angle
  - Anterior chamber
  - Choroid
  - Ciliary body
  - Conjunctiva
  - Cornea
  - Eye (globe)
  - Eye Diseases (115)
  - Eye Lids
  - Glaucoma
  - Hereditary eye disease
  - Intraocular pressure
  - Iris
  - Lacrimal drainage
  - Lacrimal gland
  - Lens and zonules
  - Macula
  - Muscles
  - Ocular surface
  - Ophthalmologic surgical procedures
  - Optic nerve
  - Optics and refraction
  - Orbit
  - Pupil
  - Retina
  - Sclera and apisclera
  - Tears
  - Vision
  - Visual (cerebral) cortex
  - Visual development (5)
  - Vitreous
- Orthopaedics
- Paediatrics
- Paediatrics
  - Adolescent health (9)
  - Bilirubin disorders (15)
  - Child abuse (16)
  - Child and adolescent psychiatry (paedatrics) (118)
  - Child health (1825)
  - Childhood nutrition (paediatrics) (147)
  - Congenital disorders
  - Developmental paediatrics (50)
  - Failure to thrive (8)
  - Infant health (1052)
  - Infant nutrition (including breastfeeding) (298)
  - Neonatal and paediatric intensive care (446)
  - Neonatal health (1147)
  - SIDS (16)
- Palliative care (1)
- Palliative care
  - End of life decisions (palliative care) (33)
  - Hospice (37)
  - Pain (palliative care) (77)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (82)
- Pharmacology and therapeutics
  - Clinical trials (pharmacology)
  - Dosage and administration
  - Drug interactions
  - Drug misuse (including addiction)
  - Efficacy
  - Formulation
  - Licensing / marketing authorisation
  - Medicines regulation (10)
  - Pharmacodynamics
  - Pharmacokinetics
  - Safety
  - Therapeutic indications
  - Toxicology
  - Unwanted effects / adverse reactions (16)
  - Warnings, precautions and contraindications
- Pharmacology and therapeutics
- Prison medicine
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders
    - Alcohol dependence
    - Alcohol intoxication
    - Alcohol withdrawal delirium
    - Alcohol-induced amnestic disorder (Korsak's syndrome)
  - Alcohol-related disorders (4)
  - Anxiety disorders (including OCD and PTSD)
    - Agoraphobia
    - Obsessive-compulsive disorder
    - Other phobias
    - Panic disorder
    - Post-traumatic stress disorder
    - Social phobia
  - Anxiety disorders (including OCD and PTSD) (9)
  - Child and adolescent psychiatry
    - Asperger syndrome
    - Attention-deficit hyperactivity disorder (2)
    - Autism (8)
    - Conduct disorder
  - Child and adolescent psychiatry
  - Delirium
  - Drugs misuse (including addiction) (37)
  - Drugs misuse (including addiction)
    - Substance dependence
    - Substance intoxication delirium
    - Substance withdrawal
    - Substance-induced psychotic disorder
  - Drugs: psychiatry (19)
  - Eating disorders (6)
  - Eating disorders
    - Anorexia nervosa (1)
    - Bulimia nervosa
  - Impulse control disorders
    - Pathological gambling
    - Trichotillomania
  - Impulse control disorders
  - Memory disorders
    - Dementia due to medical condition
    - Dementia, Alzheimer's type
    - Dementia, Pick's disease
    - Dementia, vascular
  - Memory disorders (psychiatry) (18)
  - Mood disorders (including depression)
    - Bipolar disorder
    - Depressive disorder
  - Mood disorders (including depression) (14)
  - Personality disorders
  - Personality disorders
    - Antisocial personality disorder
    - Avoidant personality disorder
    - Borderline personality disorder
    - Dependent personality disorder
    - Histrionic personality disorder
    - Schizoid personality disorder
    - Schizotypal personality disorder
  - Psychiatry of old age
  - Psychotherapy
    - Cagnitive behavioural psychotherapy
    - Dynamic psychotherapy
    - Other psychotherapies
  - Psychotherapy (2)
  - Psychotic disorders (incl schizophrenia)
    - Delusional disorder
    - Schizophrenia spectrum
  - Psychotic disorders (incl schizophrenia) (8)
  - Sexual and gender disorders
  - Sexual and gender disorders
    - Gender identity disorder
    - Paedophilia
    - Paraphilia
  - Sleep disorders
    - Primary hypersomnia
    - Primary insomnia
  - Sleep disorders
  - Somatoform disorders
  - Somatoform disorders
    - Conversion disorder
    - Dissociative disorder
    - Factitious disorder
    - Hypochondriasis
  - Suicide (psychiatry) (6)
- Psychiatry
- Radiology (792)
- Rehabilitation medicine
- Rehabilitation medicine
  - Disability (87)
  - Other rehabilitative therapies (3)
  - Physiotherapy (57)
- Renal medicine (53)
- Renal medicine
  - Acute renal failure
  - Chronic renal failure
  - Dialysis
  - Fluid electrolyte and acid-base disturbances
  - Nephrotic syndrome
  - Proteinurea
  - Renal transplantation
- Respiratory medicine
  - Adult respiratory distress syndrome
  - Airway biology (142)
  - Asthma (19)
  - Bronchiolitis (5)
  - Bronchitis (5)
  - Bronchopulmonary dysplasia (134)
  - Congenital cystic adenomatoid malformation of lung
  - Cystic fibrosis (16)
  - Drugs: respiratory system (8)
  - Fungal lung diseases
  - Hemoptysis
  - Interstitial lung disease (5)
  - Lung abscess
  - Lung cancer (respiratory medicine)
  - Lung function
  - Lung haemorrhage
  - Lung infection
  - Lung neoplasms
  - Mechanical ventilation (104)
  - Meconium aspiration
  - Parasitic lung disease
  - Pneumonia (respiratory medicine) (46)
  - Pulmonary alveolar proteinosis
  - Pulmonary embolism
  - Pulmonary emphysema
  - Pulmonary endometriosis
  - Pulmonary eosinophilia
  - Pulmonary hypertension
  - Pulmonary oedema
  - Pulmonary plasma cell granuloma
  - Pulmonary veno-occulsive disease
  - Sleep disorders (respiratory medicine) (2)
  - Tobacco related disease
  - Tuberculosis (5)
- Respiratory medicine
- Rheumatology (67)
- Rheumatology
  - Ankylosing spondylitis
  - Biological agents
  - Connective tissue disease
  - Degenerative joint disease
  - Drugs: musculoskeletal and joint diseases
  - Fibromyalgia
  - Musculoskeletal syndromes
  - Osteoarthritis
  - Osteoporosis
  - Rheumatoid arthritis
  - Sjogren's syndrome
  - Systemic lupus erythematosus
  - Vascularitis
- Sexual health (102)
- Sexual health
  - Candidiasis
  - Condoms
  - Genital ulcers
  - Hepatitis (sexual health)
  - HIV / AIDS
  - Pelvic inflammatory disease
  - Prostatitis
  - Sex workers
  - Sexual and gender disorders
  - Sexual dysfunction
  - Sexual transmitted infections (bacterial)
  - Sexual transmitted infections (bacterial)
    - Chlamydia
    - Gonorrhoea
    - Other
    - Syphilis
  - Sexual transmitted infections (viral)
  - Sexual transmitted infections (viral)
  - Urethritis
  - Vulvovaginal disorders
- Sports and exercise medicine
  - Conditions
  - Orthopaedic manipulation
  - Physical injuries
  - Physiotherapy (6)
  - Procedures
  - Sports
    - Basketball
    - Boxing
    - Cycling
    - Football (soccer)
    - Golf
    - Gymnastics
    - Ice hockey
    - Kayaking
    - Martial arts
    - Rugby
    - Running
    - Snow sports
    - Squash
    - Triathalons
    - Volleyball
    - Weight training
- Sports and exercise medicine
- Surgery
  - Breast surgery
  - Cardiothoracic surgery
  - Gastrointestinal surgery
  - General surgery
  - Neurosurgery
  - Oral and maxillofacial surgery
  - Orthopaedic and trauma surgery
  - Otolaryngology / ENT
  - Plastic and reconstructive surgery
  - Surgical oncology
  - Transplantation
  - Urological surgery
  - Vascular surgery
- Surgery (79)
- Urology (104)
- Urology
  - Circumcision
  - Hematuria
  - Prostate
  - Urinary tract infections (10)
NON-CLINICAL
- Communication (3)
- Epidemiology
  - Clinical trials (epidemiology) (294)
  - Epidemiologic studies
  - Epidemiologic studies (1104)
  - Population trends (1)
  - Screening (epidemiology) (262)
  - Survey techniques
  - Therapeutic trials
  - Time-to-event methods
- Epidemiology (4)
- Ethics
- Ethics
  - Artificial and donated transplantation (26)
  - Assisted dying (7)
  - Bioethics (2)
  - Clinical ethics (2)
  - Codes of professional ethics
  - Competing interests (ethics) (199)
  - Confidentiality (7)
  - Drug issues
  - End of life decisions (ethics) (33)
  - Ethics of abortion (52)
  - Ethics of reproduction (75)
  - Experiments in vivo (3)
  - Informed consent (32)
  - Research and publication ethics (38)
  - Sexuality / gender
- Ethnic studies
- Health economics (27)
- Health informatics
  - Information management
  - Internet
  - IT
  - Telemedicine
- Health informatics (6)
- Health policy (44)
- Health service research (39)
- Journalology (209)
- Legal and forensic medicine (48)
- Medical careers
- 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 (1)
  - Undergraduate (10)
- Medical education
- Medical humanities
  - Culture, health and illness
  - Education, medical
  - History of medicine
  - Medical anthropology
  - Music and medicine
  - Philosophy of medicine
  - Politics and medicine
  - Psychology and medicine
  - Quality of life
  - Religion and spirituality
  - Sex and sexuality
  - Theory of medical knowledge
  - Value enquiry
- Medical humanities (19)
- Medical management
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety (33)
  - Quality improvement (24)
- Occupational and environmental medicine
  - Disease and health outcomes
  - Disease and health outcomes
  - Exposures
  - Workers and industries at risk
  - Workers and industries at risk
- Occupational and environmental medicine (4)
- Patients (69)
- Public health
- Public health
  - Abuse (child, partner, elder) (5)
  - Air pollution
  - Alcohol
  - Drug misuse
  - Environmental issues (2)
  - Health education (210)
  - Health of indigenous peoples
  - Health promotion (216)
  - Homicide (3)
  - Housing and health (1)
  - Human rights (5)
  - Injury (218)
  - Injury diagnoses
    - Burns (diagnoses)
    - Fractures
    - Head injury
    - Spinal cord injury
  - Injury location
    - Workplace injury
  - Injury mechanisms
    - Burns
    - Drowning
    - Pedestrian injury
    - Poisoning/Injestion
    - Recreation/Sports injury
    - Suicide/Self harm (injury)
    - Violence
  - Obesity (public health) (118)
  - Screening (public health) (262)
  - Sexual health (public health)
  - Smoking (88)
  - Social conditions and disease (1)
  - Suicide (public health) (6)
  - Urban health
  - Vaccination programs (2)
  - Violence (other)
  - Violence against women (2)
- Smoking and tobacco
  - Economics of tobacco use and control
  - Health effects of tobacco use
  - Smoking cessation
  - Tobacco use
  - Tobacco use (youth)
- Smoking and tobacco (88)
- Sociology
- Statistics and research methods
  - Qualitative research
  - Quantitative research
- Statistics and research methods
Special collections