Phenylketonuria (pku)

Non-invasive prenatal testing of pregnancies at risk for phenylketonuria
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong

Archives of Disease in Childhood - Fetal and Neonatal Edition Jan 2019, 104 (1) F24-F29; DOI: 10.1136/archdischild-2017-313929

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

Log in using your username and password

Main menu

Log in using your username and password

You are here

Phenylketonuria (pku)