Results 71 to 80 of about 3,465 (127)

Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol. [PDF]

J Inherit Metab Dis
Veiga-da-Cunha M, Gannoun L, Dewulf J, Van Schaftingen E.   +3 more
europepmc   +1 more source

Untargeted LC-HRMS of Dried Blood Spots Reveals Metabolic Alterations and Candidate Biomarkers in Glutaric Aciduria Type-1. [PDF]

Metabolites
Mujamammi AH, Mazi TA, AlMalki RH, Sabi EM, Al Mogren M, Alwazae M, AlAhmari R, Sumaily KM, Sebaa R, Abdel Rahman AM.   +9 more
europepmc   +1 more source

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. [PDF]

BMJ Case Rep
Gulzar MM, Sarani ZA, Tariq M, Knerr I.
europepmc   +1 more source

Mental Health Across the Metabolic Spectrum. [PDF]

Biol Psychiatry Glob Open Sci
Saxena V, Marin-Valencia I.
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

Tissue specific roles of fatty acid oxidation. [PDF]

Adv Biol Regul
Smith DM, Choi J, Wolfgang MJ.
europepmc   +1 more source

Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories. [PDF]

J Clin Med
Kural RF, Galata Z, Gumusburun R, Tunakan Dalgic C, Soyer N, Yazıcı H, Yuceyar AN, Subasıoglu A, Evcili I, Gungor B, Okan K, Soylu M, Uzunkopru C, Ardeniz O.   +13 more
europepmc   +1 more source

Elevated beta-hydroxybutyrate within a pediatric population and its associated pathology: A retrospective case series. [PDF]

J Forensic Sci
Haghandish N, Girdwood A, Milroy C, Parai J.   +3 more
europepmc   +1 more source

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD. [PDF]

Obes Surg
Baig MA, Williams B.
europepmc   +1 more source

Nutritional Management of Patients with Fatty Acid Oxidation Disorders. [PDF]

Nutrients
Peña-Quintana L, Correcher-Medina P.
europepmc   +1 more source