Results 111 to 120 of about 19,908 (200)

CRISPR-Cas9-based gene editing as a proof-of-concept approach in an inborn error of immunity caused by a DCLRE1C variant. [PDF]

Immunol Res
Duran T, Karaselek MA, Dagdelen B, Kuccukturk S, Guner SN, Keles S, Reisli I.   +6 more
europepmc   +1 more source

RPLC- and HILIC-based non-targeted metabolomics workflow for blood microsamples. [PDF]

Metabolomics
Couacault P, Witting M.
europepmc   +1 more source

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]

Int J Neonatal Screen
Vasco A, Berardo C, Lucchi S, Cappelletti L, Tamburello G, Fazzone S, Mauri A, Fiumani F, Postorivo D, Alberti L, Perrone Donnorso M, Gasperini S, Furlan F, Fiori L, Carelli S, Saielli LA, Montrasio C, Cereda C.   +17 more
europepmc   +1 more source

Hidden and Under-Recognized Causes of Sudden Unexpected Death in Infancy (SUDI): A Comprehensive Review of Autopsy Findings. [PDF]

Diagnostics (Basel)
Camatti J, Santunione AL, Cecchi R, Radheshi E, Carretto E, Bonasoni MP.   +5 more
europepmc   +1 more source

Red blood cell metabolism: a window on systems health towards clinical metabolomics. [PDF]

Curr Opin Hematol
D'Alessandro A.
europepmc   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Blood Based Vascular Marker Responses to Ocufolin^® in Diabetic Retinopathy Patients Carrying MTHFR Polymorphisms. [PDF]

Biomark Insights
Wang J, Hoover A, Townsend JH, Yehoshua Z, Stremousov K, de Rivero Vaccari JP, Jiang H.   +6 more
europepmc   +1 more source

Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges. [PDF]

J Mother Child
Głąb-Jabłońska E, Taybert J, Wiśniewska A, Sasin-Rokita M, Ołtarzewski M, Chełchowska M.   +5 more
europepmc   +1 more source

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results. [PDF]

J Clin Immunol
Bas I, Topyildiz E, Ulgen E, Sahin P, Tokgoz Erdis G, Durmaz A, Karaca NE, Aksu G, Aykut A, Kutukculer N.   +9 more
europepmc   +1 more source