Update History
Syndrome: Homocystinuria due to Cystathionine Beta-Synthase Deficiency
Gene/Gene Panel: CBS
Genboree Administrator Account
2018/11/01
Released
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Pyridoxine Non-Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Prophylactic anti-coagulation in pregnancy
8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Pyridoxine Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
9CC
Prophylactic anti-coagulation in pregnancy
8CC
Internal system migration related to score text replacement from E to N
Kathleen Mittendorf
2018/01/11
Released
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Pyridoxine Non-Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Prophylactic anti-coagulation in pregnancy
8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Pyridoxine Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
9CC
Prophylactic anti-coagulation in pregnancy
8CC
Elizabeth Clarke
2017/10/23
Released
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Pyridoxine Non-Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Prophylactic anti-coagulation in pregnancy
8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
8CC
Pyridoxine Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
9CC
Prophylactic anti-coagulation in pregnancy
8CC