IreneHemel

GABA receptor signaling

Cerebral organic acidurias, including diseases

Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism

Alternative pathway of fetal androgen synthesis

Molybdenum cofactor (Moco) biosynthesis

Cysteine and methionine catabolism

Methionine metabolism leading to sulfur amino acids and related disorders

MTHFR deficiency

Degradation pathway of sphingolipids, including diseases

Mitochondrial long chain fatty acid beta-oxidation

Urea cycle and related diseases

Metabolic pathway of LDL, HDL and TG, including diseases

Vitamin B12 disorders

Disorders of folate metabolism and transport

Krebs cycle disorders

TGF-beta receptor signaling

Purine metabolism and related disorders

Urea cycle and associated pathways

Breast cancer pathway

Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine

Homologous recombination

Glycosylation and related congenital defects

Amino acid conjugation

Thiamine metabolic pathways

Vitamin B6-dependent and responsive disorders

Neurotransmitter disorders

Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseases

Pyrimidine metabolism and related diseases

Tyrosine metabolism and related disorders

Biomarkers for pyrimidine metabolism disorders

Urea cycle and metabolism of amino groups

Cannabinoid receptor signaling

Biomarkers for urea cycle disorders