Search Disease/ Diagnostics

1.2.1.31

Acidosis, Lactic

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

causal interaction
unassigned

4
0

1.2.1.31

Adenocarcinoma

Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse.

causal interaction
diagnostic usage
ongoing research
therapeutic application

4
3
4
1

1.2.1.31

Arthritis

The importance of timing of adrenergic drug delivery in relation to the induction and onset of adjuvant-induced arthritis.

diagnostic usage
ongoing research
unassigned

2
3
0

1.2.1.31

Asthma

Prostaglandins, steroids and reception (an attempt to model the structure of the active centers of adrenoreception).

unassigned

0

1.2.1.31

Brain Diseases

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

causal interaction
unassigned

4
0

1.2.1.31

Brain Diseases

Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

causal interaction
diagnostic usage
therapeutic application
unassigned

4
2
3
0

1.2.1.31

Brain Diseases

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

causal interaction
unassigned

4
0

1.2.1.31

Brain Diseases

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

causal interaction
diagnostic usage
unassigned

4
3
0

1.2.1.31

Brain Diseases

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

causal interaction
diagnostic usage
unassigned

3
3
0

1.2.1.31

Brain Diseases

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

causal interaction
unassigned

3
0