Results 101 to 110 of about 2,281 (168)

A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights. [PDF]

BMC Med Genomics
Nejati P, Khosravi T, Lorestani S, Oladnabi M.   +3 more
europepmc   +1 more source

Oligodontia Management in a Resource-Limited Setting: Two Case Reports and Review of Literature. [PDF]

Case Rep Dent
Malami AB, Ogbozor BE, Okolo CC, Aborisade AO, Mahmud UB, Abulfathi AA, Adeyemo YI.   +6 more
europepmc   +1 more source

Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report. [PDF]

Int J Clin Pediatr Dent
Jangili B, Jampanapalli SR, Patloth T, Gudipati M.   +3 more
europepmc   +1 more source

Epidemiology of autonomic dysfunction in Parkinson's disease (Review). [PDF]

Med Int (Lond)
Rissardo JP, Gadelmawla AF, Khalil I, Abdulgadir A, Bhatti KS, Fornari Caprara AL.   +5 more
europepmc   +1 more source

Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure. [PDF]

Orphanet J Rare Dis
Kügler C, Witt S, Hammersen J, Quitmann J, Schneider H.   +4 more
europepmc   +1 more source

Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report. [PDF]

J Med Case Rep
Wei X, Jiang S, Zhuo L, Jiang H, Li W.
europepmc   +1 more source

Successful Management of Pregnancy in a Patient With Fabry Disease Receiving Continuous Enzyme Replacement Therapy: A Case Report and Literature Review. [PDF]

Cureus
Kido Y, Nakahara M, Takahashi K, Nagasawa S, Maruyama Y, Ogishima D.   +5 more
europepmc   +1 more source

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]

Mol Genet Metab
Altassan R, Aldhahri SK, Macdonald G, Shah R, Morava E.   +4 more
europepmc   +1 more source

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening. [PDF]

Genet Med Open
Burlina AP, Gragnaniello V, Edini C, Salviati L, Polo G, Porcù E, Meloni N, Cazzorla C, Germain DP, Burlina AB.   +9 more
europepmc   +1 more source

A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature. [PDF]

Mol Syndromol
Akalın A, Koç N, Özşin-Özler C, Karaosmanoglu B, Ürel-Demir G, Taskiran EZ, Utine GE, Uzamış-Tekçiçek M, Şimşek-Kiper PÖ.   +8 more
europepmc   +1 more source