Results 41 to 50 of about 3,430 (100)

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet. [PDF]

Healthc Inform Res
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

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

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

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

Tissue specific roles of fatty acid oxidation. [PDF]

Adv Biol Regul
Smith DM, Choi J, Wolfgang MJ.
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