- 9.6.1 Acute porphyrias
- 9.6.2 Amyloidosis
- 9.6.3 Carnitine deficiency
- 9.6.4 Cystinosis
- 9.6.4a Nephropathic cystinosis
- 9.6.5 Fabry’s disease
- 9.6.6 Gaucher’s disease
- 9.6.7 Homocystinuria
- 9.6.8 Hypophosphatasia
- 9.6.9 Leptin deficiency
- 9.6.10 Mucopolysaccharidosis
- 9.6.11 Niemann-Pick type C disease
- 9.6.12 Pompe disease
- 9.6.13 Tyrosinaemia type I
- 9.6.14 Urea cycle disorders
- 9.6.15 Wilson’s disease