Results 81 to 90 of about 5,107 (173)

How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis? [PDF]

Saudi J Gastroenterol
Al-Hussaini AA, Bashir MS.
europepmc   +1 more source

Deep Brain Stimulation in Classical Galactosemia: A Case-Report. [PDF]

Mov Disord Clin Pract
Billet N, Simon E, Laurencin C, Jaulent A, Jaulent P, Danaila T, Prange S, Thobois S.   +7 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Translating the Power of Precision Medicine Into the World of Communication Disorders. [PDF]

J Speech Lang Hear Res
Peter B, Davis J, Bruce L, Finestack L, Kornelis M, Eng L, Kim Y, Scherer N, Potter N, VanDam M, Thompson L, Loveall S, Stoel-Gammon C, Raaz C, Armstrong-Heimsoth A, Buckley S.   +15 more
europepmc   +1 more source

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle. [PDF]

Clin Case Rep
Shah RK, Khan SA, Devkota D, Aryal M, Subedi N, Aryal B, Gurubacharya B, Parajuli S, Gupta A, Parajuli SB, Kausar H.   +10 more
europepmc   +1 more source

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population. [PDF]

Front Pediatr
Shafique K, Raza A, Naushad A, Hussain F, Walid D, Wareth L, El-Hattab AW, Bedair RN, Al Dweik R, Sadier NS.   +9 more
europepmc   +1 more source

Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia. [PDF]

Int J Neonatal Screen
Suzuki-Ajihara S, Musha I, Arao M, Mori K, Fujibayashi S, Ryo I, Kono T, Tajima A, Mochizuki H, Imai-Okazaki A, Araki R, Numakura C, Ohtake A.   +12 more
europepmc   +1 more source

Single-cell transcriptomics reveals mechanisms of <i>Galt</i> gene editing-induced liver injury involving HGF-VEGF-mediated intercellular signaling in mice. [PDF]

Front Cell Dev Biol
Li Z, Wang N, Ruan H, Li Q, Zhang X, Liu N, Li Y, Gu L, Yue P, Yu H.   +9 more
europepmc   +1 more source

Bone mineral density in adolescents and young women with hypogonadism: a DXA-based comparative analysis. [PDF]

J Turk Ger Gynecol Assoc
Kurtoğlu N, Hayırlıoğlu N.
europepmc   +1 more source

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

Int J Neonatal Screen
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs K, Kincs J, Kiss E, Kósa M, Lénárt I, Pálmay A, Rácz G, Szabó H, Szabó L, Tőkési V, Xue A, Zsidegh P, Szabó AJ, Bereczki C.   +23 more
europepmc   +1 more source