Defects in glycoprotein degradation Notes: Aspartylglucosaminuria ; Fucosidosis ; Mannosidosis ; Sialidosis
E78.70 Disorder of bile acid and cholesterol metabolism, unspecified
Disorder of bile acid and cholesterol metabolism, unspecified
E80.1 Porphyria cutanea tarda
Porphyria cutanea tarda
E74.19 Other disorders of fructose metabolism Notes: Fructose-1, 6-diphosphatase deficiency
Other disorders of fructose metabolism Notes: Fructose-1, 6-diphosphatase deficiency
E75 Disorders of sphingolipid metabolism and other lipid storage disorders Notes: Adult GM2 gangliosidosis ; Juvenile GM2 ga…
Disorders of sphingolipid metabolism and other lipid storage disorders Notes: Adult GM2 gangliosidosis ; Juvenile GM2 gangliosidosis ; Gangliosidosis NOS ; GM1 gangliosidosis ; GM3 gangliosidosis ; Ac ...
E75.241 Niemann-Pick disease type B Notes: Acid sphingomyelinase deficiency type B (ASMD type B) ; Chronic visceral acid sphingo…
Niemann-Pick disease type B Notes: Acid sphingomyelinase deficiency type B (ASMD type B) ; Chronic visceral acid sphingomyelinase deficiency
E76.02 Hurler-Scheie syndrome
Hurler-Scheie syndrome
E77.8 Other disorders of glycoprotein metabolism
Other disorders of glycoprotein metabolism
