|
Mucopolysaccharidosis:
| | |
Glycogenosis:
|
| | | |
Type IV (Anderson disease):[31, 32]
|
|
MPS IVA (this publication)
| |
MPS IVA (Morquio)[33, 34]
|
Congenital disorder of glycosylation:
|
|
MPS VII (this publication)
| |
MPS VII (Sly):[35–41, 14]
|
CDG Ia[42, 43]
|
|
Peroxismal disorder:
|
|
Zellweger syndrome[44]
|
|
Sphingolipidosis/Oligosaccharidoses:
| | |
Fatty acid oxidation defects:
|
|
GM1-Gangliosidosis[14, 15] Niemann-Pick C (this publication)
|
Sialidosis[45–47]
|
Sialidosis Galactosialidosis[48, 49]
|
Long-chain-hydroxyacyl CoA dehydrogenase deficiency (LCHAD)[50]
|
|
GM1-gangliosidosis[51, 15]
|
|
GM1-gangliosidosis[29]
|
Primary carnitine deficiency[52]
|
|
Niemann-Pick C[53, 54]
|
Gaucher Type II[55]
|
Cholesterol biosynthesis defects:
|
|
Niemann-Pick A[11, 56]
|
Smith-Lemli-Opitz Syndrome[57]
|
|
Niemann-Pick C[58]
|
Greenberg syndrome: Hydrops-ectopic calcification moth-eaten skeletal dysplasia[59]
|
|
Farber disease[9, 60]
|
|
Conradi Huenermann: Chondrodysplasia punctata[61] (X linked disorder: male fetus)
|
|
Lysosomal transport defect:
|
Infantile sialic acid storage disease[62]
|
Infantile sialic acid storage disease[63]
|
|
Others:
|
|
Citric-acid cycle defect (Fumarase deficiency)[64, 65]
|
|
Others:
|
Wolman disease[66]
|
Mucolipidosis Type II (I-cell disease)[67]
|
Neonatal hemochromatosis[20]
|
| | | |
Transaldolase deficiency[68]
|
| | | |
S-adenosylhomocysteine hydrolase deficiency[69]
|
| | | |
Congenital erythropoietic porphyria[70]
|
