Results 101 to 110 of about 3,242 (162)

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

Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report. [PDF]

Case Rep Dent
Lala S, Almustafa A.
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

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. [PDF]

Orphanet J Rare Dis
Kovalskaia VA, Cherevatova TB, Zinina EV, Shagina OA, Vorontsova EO, Matyushchenko GN, Demina NA, Petukhova MP, Markova TV, Guseva DM, Galkina VA, Anisimova IV, Stepanova AA, Chuhrova AL, Sharova MV, Bostanova FM, Voskanyan AE, Polyakov AV, Ryzhkova OP.   +18 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

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

Treatment with Agalsidase Alfa during Pregnancy in a Heterozygous Female with Fabry Disease

, 2016
BIFULCO, GIUSEPPE, DI SPIEZIO SARDO, ATTILIO, PISANI, ANTONIO, RICCIO, ELEONORA   +3 more
core  

Chest Discomfort, Left Ventricular Hypertrophy, Global T-Wave Inversion, and Short PR Interval Points to a Particular Cardiac Condition. What Could Be the Diagnosis? [PDF]

Ann Noninvasive Electrocardiol
Li JX, Di XX, Gao M, Li XQ, Wang YL, Zheng J.   +5 more
europepmc   +1 more source

Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation. [PDF]

Front Immunol
Yuan Y, Zhang X, Zhao Y, Wang Y, Huang J, Wang Q, Song X, Deng J, Wang Z, Yuan Y, Zhang W.   +10 more
europepmc   +1 more source