Lesch-Nyhan syndrome Notes: HGPRT deficiency
E83 Disorders of mineral metabolism Notes: Menkes’ (kinky hair) (steely hair) disease ; Bronzed diabetes ; Pigmentary cirrho…
Disorders of mineral metabolism Notes: Menkes' (kinky hair) (steely hair) disease ; Bronzed diabetes ; Pigmentary cirrhosis (of liver) ; Primary (hereditary) hemochromatosis ; Iron overload due to rep ...
E74.03 Cori disease Notes: Forbes disease ; Type III glycogen storage disease
Cori disease Notes: Forbes disease ; Type III glycogen storage disease
E74.8 Other specified disorders of carbohydrate metabolism Notes: De Vivo syndrome ; Glucose transport defect, blood-brain bar…
Other specified disorders of carbohydrate metabolism Notes: De Vivo syndrome ; Glucose transport defect, blood-brain barrier ; Glut1 deficiency ; GLUT1 deficiency syndrome 1, infantile onset ; GLUT1 d ...
E75.19 Other gangliosidosis Notes: GM1 gangliosidosis ; GM3 gangliosidosis
Other gangliosidosis Notes: GM1 gangliosidosis ; GM3 gangliosidosis
E75.4 Neuronal ceroid lipofuscinosis Notes: Batten disease ; Bielschowsky-Jansky disease ; Kufs disease ; Spielmeyer-Vogt dise…
Neuronal ceroid lipofuscinosis Notes: Batten disease ; Bielschowsky-Jansky disease ; Kufs disease ; Spielmeyer-Vogt disease
E78.41 Elevated Lipoprotein(a) Notes: Elevated Lp(a)
Elevated Lipoprotein(a) Notes: Elevated Lp(a)