Results 91 to 100 of about 148,113 (146)

Hepatic glucokinase regulatory protein and carbohydrate response element binding protein attenuation reduce de novo lipogenesis but do not mitigate intrahepatic triglyceride accumulation in Aldob deficiency. [PDF]

Mol Metab
Buziau AM, Oosterveer MH, Wouters K, Bos T, Tolan DR, Agius L, Ford BE, Cassiman D, Stehouwer CDA, Schalkwijk CG, Brouwers MCGJ.   +10 more
europepmc   +1 more source

Rare cause of recurrent acute pancreatitis in teenage man. [PDF]

eGastroenterology
Lai Y, Pan J, Peng K, Wu D, Wen L.
europepmc   +1 more source

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease. [PDF]

Nutrients
Pretese R, Bonfanti C, Faraguna MC, Fantasia M, Crescitelli V, Barzaghi S, Botti M, Mezzanotti G, Gasperini S.   +8 more
europepmc   +1 more source

The sucrose challenge symptoms test optimized for diagnosis of congenital sucrase isomaltase deficiency. [PDF]

PLoS One
Street K, Tao W, Cash B, Leung J, Hayes C, Cooper D, Peterson W.   +6 more
europepmc   +1 more source

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency. [PDF]

Mol Genet Metab Rep
Morris AAM, Cuenoud B, Delerive P, Mundy H, Schwahn BC.   +4 more
europepmc   +1 more source

Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study. [PDF]

JIMD Rep
Agnoletto L, Vandeleur M, White M, Adams AM, Halligan R, Peters H.   +5 more
europepmc   +1 more source

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury. [PDF]

CEN Case Rep
Akar HT, Yıldız Y, Mutluay R, Tekin E, Tokatlı A.   +4 more
europepmc   +1 more source

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation. [PDF]

Mass Spectrom (Tokyo)
Wada Y.
europepmc   +1 more source

Practical experience and challenges in nutritional management of glucose transporter 1 deficiency syndrome: Provider survey results. [PDF]

Epilepsia Open
Lehner-Gulotta D, Blackford R, Bessone S, Lowman W, Haggerty N, Huang CY, Axeen ET, Ketogenic Dietitians Research Network.   +7 more
europepmc   +1 more source

Inherited Metabolic Disorders: From Bench to Bedside. [PDF]

Biomedicines
Fonseca T, Macedo MF.
europepmc   +1 more source