135 results

... Gardiner T, Guppy S, Rees DC, Stein P, Barth J, Felicity Stewart M, Badminton M. An audit of the use of gonadorelin analogues to prevent recurrent acute symptoms in patients with acute porphyria in the United ...

... and advanced CP include pancreatic atrophy, fibrosis, pain syndromes, duct distortion and ... the Diagnosis The diagnosis of PRSS1 -related HP is established ...

... et al 2015 ]. White matter abnormalities in Jacobsen syndrome have been reported to normalize in some individuals, suggesting similarity with improving MLC [ Fujino et al 2020 ]. Differential Diagnosis The differential diagnosis of macrocephaly and diffuse leukoencephalopathy ...

... PLP has been proposed in children with West syndrome when infantile spasms are associated with other seizure types or have started before age two months [ Gibaud et al 2021 ].) Other Considerations in the Differential Diagnosis of PNPO Deficiency Inborn pyridoxine dependency states. While ...

... PLP has been proposed in children with West syndrome when infantile spasms are associated with other seizure types or have started before age two months [ Gibaud et al 2021 ].) Other Considerations in the Differential Diagnosis of PDE- ALDH7A1 Inborn pyridoxine dependency states. While ...

... Alameer S, Najmabadi H, Cohn R, Munnich A, Barth M, Lugli L, Alkuraya FS, Blaser S, Gashlan M, Besmond C, Darmon M, Masson J. YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations. Brain. ...

... autosomal recessive manner. Spinocerebellar ataxia ... differential diagnosis of subacute juvenile Sandhoff disease (see Hereditary Ataxia ...

... A, Zschocke J, Christensen E. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996; 27 :115–23. [ PubMed : 8837070 ] Hoffmann GF, Trefz FK, Barth PG, Böhles HJ, Biggemann B, Bremer HJ, Christensen ...

... Thompson DF, Montarella KE. Drug-induced Sweet’s syndrome. Annals of ... or Circulatory Symptoms in Girls Exposed to Human Papillomavirus Vaccination: Cohort, ...