Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Hypogonadism-Short Stature-Coloboma-Preaxial Polydactyly Syndrome
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome is a very rare, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Tetrahydrobiopterin-Deficient Hyperphenylalaninemia Due to PTS Deficiency
Tetrahydrobiopterin-deficient hyperphenylalaninemia due to PTS deficiency is a rare, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Hyperphenylalaninemia due to 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency
Hyperphenylalaninemia due to 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency is a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
BH4-Deficient Hyperphenylalaninemia Type A
bh4-deficient hyperphenylalaninemia type a happens when the body cannot make enough ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency is a rare, inherited metabolic ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
BH4-Deficient Hyperphenylalaninemia A
BH4-deficient hyperphenylalaninemia A is a rare inherited condition in which the body ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Beta-Alanine Synthase Deficiency
Beta-alanine synthase deficiency is a very rare, inherited problem with breaking down the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Beta-Ureidopropionase Deficiency
Beta-ureidopropionase deficiency is a very rare, inherited disorder of pyrimidine ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Thrombocytopenia with X-Linked Recessive Beta-Thalassemia
Thrombocytopenia with X-linked recessive beta-thalassemia is a rare, inherited blood ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Beta-Thalassemia–X-linked Thrombocytopenia Syndrome
Beta-thalassemia–X-linked thrombocytopenia syndrome is a rare, inherited blood disorder ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Peroxisomal Thiolase Deficiency (T2 Deficiency)
Peroxisomal thiolase deficiency (historical label) was used for a suspected single-enzyme ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency is a rare, inherited problem ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Mitochondrial 2-Methylacetoacetyl-CoA Thiolase (ACAT1) Deficiency
Mitochondrial 2-methylacetoacetyl-CoA thiolase (ACAT1) deficiency—also called ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Deficiency of Acetyl-Coenzyme A Acetyltransferase
Deficiency of acetyl-coenzyme A acetyltransferase is a rare, inherited metabolic ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Deficiency of Acetoacetyl-CoA Thiolase (ACAT1 Deficiency / Beta-Ketothiolase Deficiency)
ACAT1 deficiency is a rare, inherited condition where the body cannot properly use the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Alpha-Methylacetoacetic Aciduria
Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disease. The body lacks ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Alpha-Methyl-Acetoacetyl-CoA Thiolase Deficiency
Alpha-methyl-acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disorder. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Alpha-Methylacetoacetic Aciduria
Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disorder. The body cannot ...
