EC Number   |
Disease  |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.7.3.2 | 4alpha-methylsterol monooxygenase deficiency |
23042573 |
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. |
causal interaction
unassigned |
4
0 |
| 2.7.3.2 | Abetalipoproteinemia |
6453575 |
Choreoacanthocytosis. Clues to clinical diagnosis. |
diagnostic usage
unassigned |
3
0 |
| 2.7.3.2 | Abetalipoproteinemia |
7931422 |
A family of McLeod syndrome, masquerading as chorea-acanthocytosis. |
unassigned |
0 |
| 2.7.3.2 | Abetalipoproteinemia |
8310805 |
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. |
causal interaction
unassigned |
4
0 |
| 2.7.3.2 | Abetalipoproteinemia |
8697459 |
Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis. |
causal interaction
diagnostic usage
unassigned |
1
1
0 |
| 2.7.3.2 | Abetalipoproteinemia |
10426139 |
A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. |
causal interaction
unassigned |
2
0 |
| 2.7.3.2 | Abetalipoproteinemia |
10465497 |
A case of McLeod syndrome with unusually severe myopathy. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.7.3.2 | Abetalipoproteinemia |
10895256 |
Kell, Kx and the McLeod syndrome. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.7.3.2 | Abetalipoproteinemia |
11032622 |
Unusual muscle pathology in McLeod syndrome. |
diagnostic usage
unassigned |
4
0 |
| 2.7.3.2 | Abetalipoproteinemia |
12036185 |
A case of chorea-acanthocytosis with dysautonomia; quantitative autonomic deficits using CASS. |
unassigned |
0 |
