Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity.
- Pathogenesis
- Group Susceptibility
- Single-Gene Disorder Blocking
- Chromosomal Disorders
- Environmental Factors
- Factors of Birth
- No Symptoms or Delay of Symptoms
- Specific Biomarkers
- Specific Presentation
- Laboratory Indication
- Application of Tandem Mass Spectrometry in Cardiac Screening
- Prenatal Genetic Testing
- Prevention and Treatment, Prognosis
- Phenylketonuria
- Congenital Hypothyroidism
- Congenital Adrenal Cortical Hyperplasia
- Amino Acid Metabolic Disorders
- Organic Acidemia
- Fatty Acid Oxidation Disorders
- Sickle-Cell Anemia
- Maple Syrup Urine Disease
- Drug and Gene Therapies
The latest theories and developments of neonatal hereditary diseases will be displayed.
The latest screening indications and methods will be interpreted.
Clinical Translation will be strengthened with new ideas.
Researchers from Universities and Institutes
Clinicians
Personnels from Companies on Laboratory Developed Testing
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