Results 81 to 90 of about 475,319 (124)

The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. [PDF]

JIMD Rep, 2012
Peuscher R, Dijsselhof ME, Abeling NG, Van Rijn M, Van Spronsen FJ, Bosch AM.   +5 more
europepmc   +1 more source

Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review. [PDF]

Med Sci Monit
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B.   +5 more
europepmc   +1 more source

Metabolic reprogramming-mediated therapeutic resistance in renal cell carcinoma: Mechanisms and targeted intervention strategies. [PDF]

iScience
Wu H, Gan X, Wang S, Wang R, Hu J, Wang L, Shi J.   +6 more
europepmc   +1 more source

Citrin Deficiency: Biochemical Mechanisms Underlying a Complex Hepatic Metabolic Disorder. [PDF]

Biomolecules
García-Lobo I, Del Arco A, Satrústegui J, Contreras L.   +3 more
europepmc   +1 more source

Seizure due to Lamotrigine Underexposure During High-Volume CRRT for Hyperammonaemia: A Case Report. [PDF]

Case Rep Crit Care
van Herwerden MC, Elderman JH, Favie LMA, Wagenmakers M.   +3 more
europepmc   +1 more source

Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate. [PDF]

Orphanet J Rare Dis
Spada M, Porta F.
europepmc   +1 more source

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry. [PDF]

Int J Neonatal Screen
Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jiménez MC, Meavilla Olivas S, García Volpe C, de Los Santos Mercedes M, García-Cazorla Á, Felipe-Rucián A, Dougherty-de Miguel L, Morais López A, Bergua Martínez A, Andrade Guerrero JD, Stanescu S, Belanger A, Gil-Campos M, Comino Monroy MJ, Bellusci M, Pérez-Mohand P, Barrio-Carreras D, Pérez B, Martín-Hernández E.   +25 more
europepmc   +1 more source

Comparative genomics and metabolic model analysis of primary and secondary endosymbionts present in different species of whitefly. [PDF]

J Insect Sci
Pandey N, Rajagopal R.
europepmc   +1 more source

Fumarate and fumarate hydratase: an immunometabolite regulator of inflammation and diseases. [PDF]

Front Immunol
Jiang Z, Zhong Y, He Z, He Z, Wang W, He R.   +5 more
europepmc   +1 more source

Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry? [PDF]

Metabolites
Kadıoğlu Yılmaz B, Sivrikaya A, Ünlü A.   +2 more
europepmc   +1 more source