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AMINO ACID DISORDERS
DOCTORS
- Homocystinuria/Hypermethioninemia
- Methionine Adenosine Transferase Deficiency
- Maple Syrup Urine Deficiency
- Phenylketonuria
- Hyperphenylalaninemia
- 6-PTPS Deficiency
- Tyrosinemia Type I
- Tyrosinemia Type II
PARENTS ENGLISH
- Homocystinuria Hypermethioninemia
- Methionine Adenosine Transferase Deficiency
- Maple Syrup Urine Deficiency
- Phenylketonuria
- Tyrosinemia Type I
PARENTS FILIPINO
-
ENDOCRINE DISORDERS
DOCTORS
- Congenital Adrenal Hyperplasia
- Congenital Hypothyroidism
PARENTS ENGLISH
PARENTS FILIPINO
-
FATTY ACID OXIDATION DISORDERS
DOCTORS
- MCADD
- VLCADD
- LCHAD Deficiency
- Trifunctional Protein (TFP) Deficiency
- Carnitine Palmitoyl Transferase Deficiency 1
- Carnitine Palmitoyl Transferase Deficiency 2
- Carnitine Uptake Defect
- Glutaric Aciduria Type 2
PARENTS ENGLISH
- Intro
- CPT1 (Carnitine Palmitoyl Transferase Deficiency Type 1)
- CPT2 (Carnitine Palmitoyl Transferase Deficiency Type 2)
- GA 2 (Glutaric Aciduria Type 2)
- LCHADD (long chain 3-hydroxyacyl-CoA dehydrogenase deficiency)
- MCADD (medium chain acyl-CoA dehydrogenase deficiency)
- TFP (trifunctional protein deficiency)
- VLCADD (very long chain acyl-CoA dehydrogenase deficiency)
PARENTS FILIPINO
- Intro
- CPT1 (Carnitine Palmitoyl Transferase Deficiency Type 1)
- CPT2 (Carnitine Palmitoyl Transferase Deficiency Type 2)
- GA 2 (Glutaric Aciduria Type 2)
- LCHADD (Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency)
- MCADD (Medium Chain acyl-CoA Dehydrogenase Deficiency)
- TFP (Trifunctional Protein Deficiency)
- VLCADD (Very Long Chain Acyl-CoA Dehydrogenase Deficiency)
-
ORGANIC ACIDURIAS
DOCTORS
- Propionic Acidemia (PA)
- Methylmalonic Academia (MMA)
- Isovaleric Acidemia (IVA)
- 3-MCC
- Beta-Ketothiolase Deficiency
- Glutaric Aciduria Type 1
- Multiple Carboxylase Deficiency
PARENTS ENGLISH
- Intro
- 3-MCC
- BKD (Beta-Ketothiolase Deficiency)
- GA 1 (Glutaric Aciduria Type 1)
- MCD (Multiple Carboxylase Deficiency)
- IVA (Isovaleric Acidemia)
- MMA (Methylmalonic Acidemia)
- PA (Propionic Acidemia)
PARENTS FILIPINO
-
THALASSEMIAS AND HEMOGLOBINOPATHIES
DOCTORS
- None
PARENTS ENGLISH
PARENTS FILIPINO
- None
-
UREA CYCLE DEFECTS
DOCTORS
PARENTS ENGLSIH
PARENTS FILIPINO
-
OTHERS
DOCTORS
- Biotinidase Deficiency
- Cystic Fibrosis
- Galactosemia
PARENTS ENGLISH
PARENTS FILIPINO
