Results 81 to 90 of about 148,113 (146)

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience. [PDF]

Clin Case Rep
Alaee M, Saneifard H, Shakiba M, Hanifeh M, Moarefian S.   +4 more
europepmc   +1 more source

Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program. [PDF]

Acta Med Philipp
Orteza MEV, Abacan MAR.
europepmc   +1 more source

Impact of Flash Glucose Monitoring in Adults with Inherited Metabolic Disorders at Risk of Hypoglycemia. [PDF]

Nutrients
Amuedo S, Dios-Fuentes E, Benítez-Ávila R, Remón-Ruiz P, Soto-Moreno A, Venegas-Moreno E.   +5 more
europepmc   +1 more source

Hyperammonaemic encephalopathy due to non-functioning urea cycle as a complication to gastric bypass surgery. [PDF]

Metab Brain Dis
Kjærgaard K, Eriksen PL, Nøhr TK, Pedersen SB, Gravholt CH, Vilstrup H, Thomsen KL.   +6 more
europepmc   +1 more source

Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency. [PDF]

BMC Pediatr
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, de Juan JAC, Bóveda MD, Barbosa-Gouveia S, Vázquez-Mosquera ME, Barros-Angueira F, Patiño RF, Couce ML.   +9 more
europepmc   +1 more source

Bringing nutritional ketosis to the table as an option for healing the pediatric brain. [PDF]

Front Nutr
Gertler TS, Blackford R.
europepmc   +1 more source

Emergency Management of Intoxication-Type Inherited Metabolic Disorders. [PDF]

J Inherit Metab Dis
Tarr JD, Morris AAM.
europepmc   +1 more source

Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review. [PDF]

Mol Genet Metab Rep
Amin Nordin FD, Omar A, Kamarudin B, Simpson T, Abdul Jalil J, Pung YF.   +5 more
europepmc   +1 more source

Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1. [PDF]

Front Pediatr
López-Mejía L, Guillén-Lopez S, Vela-Amieva M, Santillán-Martínez R, Abreu M, González-Herrra MD, Díaz-Martínez R, Reyes-Magaña JG.   +7 more
europepmc   +1 more source

Shoshin Beriberi in a Child With Intestinal Failure: A Case Report. [PDF]

Crit Care Explor
Böhrer M, Burgess P, Da Costa Sao Pedro T, Boctor DL, Boggs S.   +4 more
europepmc   +1 more source