Results 171 to 180 of about 17,668 (251)

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

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target. [PDF]

J Inherit Metab Dis
Zeyer KA, Tholen S, Schilling O, Gerling L, Morath M, Kölker S, Nyström A, Spiekerkoetter U, Schumann A.   +8 more
europepmc   +1 more source

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health. [PDF]

Metabolites
Lundqvist T, Stenlid R, Halldin M.
europepmc   +1 more source

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy [PDF]

, 2017
Binkert, F., Blau, N., Guardamagna, O., Kierat, L., Matasovic, A., Ponzone, A., Ponzone, R., Spada, M., Viora, E.   +8 more
core  

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

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations. [PDF]

Orphanet J Rare Dis
Handoom B, Alohali E, Elsagher H, Alohali L, Alhamed N, Alabyad W.   +5 more
europepmc   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
europepmc   +1 more source

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia. [PDF]

Int J Mol Sci
Vanegas S, Ramírez-Montaño D, Padilla-Guzmán A, Pachajoa H.   +3 more
europepmc   +1 more source

Characterization of Treatment Utilization in a Metabolic Genetics Clinic. [PDF]

J Pediatr Pharmacol Ther
Riedy M, Briggs J, Huang T.
europepmc   +1 more source

The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism. [PDF]

Case Rep Med
Cullufi P, Hoxha G, Gjeta I, Dervishi E, Velmishi V, Jazexhiu-Postoli E, Kola E, Tomori S, Sala D, Tabaku M.   +9 more
europepmc   +1 more source