Medicine and Dentistry
Diseases
100%
Newborn Screening
88%
Glycogen Storage Disease Type II
73%
Metabolomics
57%
Liver Transplantation
49%
Autosomal Recessive Inheritance
45%
Exome Sequencing
42%
Cobalamin
41%
Cell Transplantation
41%
Hematopoietic Cell
41%
Supplementation
32%
Malformation Syndrome
29%
Methylmalonic Acidemia
28%
Epileptic Seizure
28%
Genitourinary System
28%
Hurler Syndrome
27%
Rhabdomyolysis
24%
Propionic Acidemia
24%
Pediatrician
24%
Haploinsufficiency
24%
Arteriovenous Malformation
24%
Cancer Syndrome
24%
Hamartoma
24%
Mucopolysaccharidosis
24%
Heart Function
24%
Albers Schoenberg Disease
24%
Leigh's Disease
24%
Developmental Regression
24%
Cytochrome C Oxidase
24%
Cardiac System
24%
Cleft Lip Palate
24%
Retinopathy
24%
Myelin
24%
Congenital Malformation
24%
Gastrointestinal System
24%
Genetic Counseling
24%
Clinical Finding
24%
Vitamin B Group
24%
Riboflavin
24%
Megaloblastic Anemia
24%
Cysteine
24%
Patient Monitoring
24%
Intensive Care
24%
Adrenoleukodystrophy
24%
Thrombotic Thrombocytopenic Purpura
24%
Multiple Sulfatase Deficiency
24%
Bone Marrow Transplantation
24%
Next Generation Sequencing
24%
Enzyme Replacement Therapy
24%
Genetic Disorder
20%
Keyphrases
Newborn Screening
92%
Pompe Disease
73%
Liver Transplantation
49%
Photosystem II
49%
Multiple Sulfatase Deficiency
49%
Autosomal Recessive
45%
Cobalamin
41%
Hematopoietic Cell Transplantation
41%
Biallelic Variants
36%
Sulfatase
36%
Pathogenic Variants
36%
Genetic Counseling
32%
Developmental Delay
32%
Minnesota
32%
Phenotypic Spectrum
31%
Disease Severity
29%
Methylmalonic Acidemia
28%
Dysmorphic Features
28%
Seizure
28%
Untargeted Metabolomics
28%
Untargeted Metabolomics Analysis
28%
Intellectual Disability
28%
Clinical Features
25%
Hartnup Disease
24%
FDX2
24%
Carrier Screening
24%
Cardiac Function
24%
Haploinsufficiency
24%
Myelin Regulatory Factor
24%
Cysteine Supplementation
24%
Cardiac Phenotype
24%
Biochemical Signatures
24%
Early childhood
24%
Riboflavin Transporter Deficiency
24%
Autosomal Recessive Osteopetrosis
24%
Propionic Acidemia
24%
Pediatrician's Role
24%
Early Neonatal Period
24%
Hurler Syndrome
24%
PTEN Hamartoma Tumor Syndrome
24%
Neurodevelopmental
24%
Treatment Monitoring
24%
Thrombotic Microangiopathy
24%
Collectrin
24%
Novel Deletion
24%
Megaloblastic Anemia
24%
Multiple Hamartoma Syndrome
24%
Single-center Study
24%
Novel Variants
24%
Riboflavin
24%