Results 91 to 95 of about 409 (95)

Diagnosing the oil drop: A case report and review of the literature.

Indian J Ophthalmol, 2019
Chhapan RJ, Yerramneni R, Ramappa M.
europepmc   +1 more source

A GC-MS-based untargeted metabolomics approach for comprehensive metabolic profiling of mycophenolate mofetil-induced toxicity in mice. [PDF]

Front Mol Biosci
Zhao T, Zhao Y, Chen H, Sun W, Guan Y.
europepmc   +1 more source

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening. [PDF]

Genes (Basel)
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W, Oliveira ASB, Breinis P, Morita MDPA, França MC.   +10 more
europepmc   +1 more source

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. [PDF]

Orphanet J Rare Dis
Couce ML, Bóveda MD, Castiñeiras DE, Vázquez-Mosquera ME, Barbosa-Gouveia S, De Castro MJ, Iglesias-Rodríguez AJ, Colón C, Cocho JA, Sánchez P.   +9 more
europepmc   +1 more source

Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia. [PDF]

Clin Transl Med
Kavarthapu R, Lou H, Pham T, Do H, Soliman ME, Badger T, Balasubramanian R, Huyhn V, De La Luz Sierra M, Yano Maher JC, Gomez-Lobo V.   +10 more
europepmc   +1 more source