scholarly article | Q13442814 |
P2093 | author name string | J V Been | |
L A Bok | |||
P Andriessen | |||
W O Renier | |||
P2860 | cites work | Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy | Q31407016 |
Respiratory morbidity of hospitalized children with Trisomy 21. | Q33717584 | ||
Pyridoxine-dependent and pyridoxine-responsive seizures | Q34284735 | ||
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. | Q34425079 | ||
Effect of handwashing on child health: a randomised controlled trial | Q34434418 | ||
Pyridoxine-dependent seizures: a clinical and biochemical conundrum | Q35103510 | ||
Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. | Q35265153 | ||
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern | Q35288588 | ||
Injury in young people with intellectual disability: descriptive epidemiology. | Q35390265 | ||
People with intellectual disability and their health problems: a review of comparative studies | Q35629137 | ||
Pyridoxine-dependent seizures, clinical and therapeutic aspects | Q37372916 | ||
Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient | Q40662094 | ||
Current perspectives on pyridoxine-dependent seizures | Q43681492 | ||
Demographics and diagnosis of pyridoxine-dependent seizures | Q45247052 | ||
Early risk factors for mental retardation: role of maternal age and maternal education. | Q51960427 | ||
Caring for a vulnerable population: Who will take responsibility for those getting a raw deal from the health care system? | Q71073562 | ||
[Pyridoxine-dependent epilepsy in an infant] | Q71759540 | ||
Health problems in people with intellectual disability in general practice: a comparative study | Q73048511 | ||
Neonatal seizures after pyridoxine use | Q73356545 | ||
Prevalence of intellectual disability in Western Australia | Q78871302 | ||
P433 | issue | 12 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Netherlands | Q55 |
obstetrics and gynaecology | Q80015 | ||
epidemiology | Q133805 | ||
pyridoxine | Q423746 | ||
P304 | page(s) | 1293-6 | |
P577 | publication date | 2005-12-01 | |
P1433 | published in | Archives of Disease in Childhood | Q4787296 |
P1476 | title | Epidemiology of pyridoxine dependent seizures in the Netherlands | |
P478 | volume | 90 |
Q45934648 | Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. |
Q36501317 | B6-responsive disorders: a model of vitamin dependency |
Q58805827 | Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS |
Q39173841 | Callosal alterations in pyridoxine-dependent epilepsy. |
Q28541418 | Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants |
Q37258372 | Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry |
Q39044733 | Current treatment and management of pyridoxine-dependent epilepsy |
Q40072612 | Intermittent convulsions for 1.5 years and psychomotor retardation in a girl |
Q42058235 | Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy |
Q47376382 | Long-term outcome in pyridoxine-dependent epilepsy |
Q92891872 | Neonatal Encephalopathies: A Clinical Perspective |
Q87419170 | Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy |
Q42342725 | Pyridoxine dependent epilepsies: new therapeutical point of view |
Q34195320 | Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up |
Q47410011 | Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort. |
Q46840174 | Pyridoxine-dependent epilepsy initially responsive to phenobarbital |
Q47833653 | Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene |
Q24674213 | Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels |
Q38370969 | Roth spots in pyridoxine dependent epilepsy |
Q34377740 | Seizures caused by pyridoxine (vitamin B6) deficiency in adults: A case report and literature review |
Q24616654 | The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 |
Q90457193 | The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy |
Q38128240 | The molecular biology of genetic-based epilepsies. |
Search more.