Results 111 to 120 of about 2,305 (172)

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

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

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

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

Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies. [PDF]

Front Med (Lausanne)
Shah HH, Hussain T, Subash A, Qadir RA, Meshram YR, Shahzad M, Sultan W, Hadi Z, Ashfaque F, Anas Z, Rauf SA, Waseem R, Hussain MS, Zuberi MAW.   +13 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

Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring. [PDF]

Biomedicines
Lu Z, Xia Y, Wang B, Jiang P, Mao J.
europepmc   +1 more source

Omalizumab for cholinergic pruritus in a renal transplant and hemodialysis patient. [PDF]

An Bras Dermatol
Shu Q, Zhong X, Zhang L, Wang Q.
europepmc   +1 more source

Usefulness of digital infrared thermography video using FLIR T560 in detecting hypothermia associated with complex regional pain syndrome type I: A CARE-compliant case report. [PDF]

Medicine (Baltimore)
Jang Y, Kim S, Chang MC.
europepmc   +1 more source