Results 51 to 60 of about 3,430 (100)

Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency. [PDF]

Int J Mol Sci
Ünlü Torlak E, Koç Yekedüz M, Bülbül YE, Kara İS, Erdoğan Kablan S, Eylem CC, Uçar B, Süslü İ, Baysal İ, Yabanoğlu Çiftçi S, Eminoğlu FT, Nemutlu E, Köse E.   +12 more
europepmc   +1 more source

Towards Simplification of Ketogenic Diet in Epilepsy: Effect of Caprylic (C8) and Capric (C10) Acid on the Mitochondrial Respiratory Chain in Murine Hippocampal Neurons In Vitro. [PDF]

Nutrients
Rühling MR, Hartmann H, Das AM.
europepmc   +1 more source

The Importance of Biochemical Screenings in the Diagnosis of Hypophosphatasia: Applications, Methodologies, and Challenges. [PDF]

Int J Mol Sci
Marini F, Palmini G, Donati S, Giusti F, Brandi ML.   +4 more
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

Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review. [PDF]

Front Pediatr
Tan YY, Tewani KG, Anand AJ, Kong CX, Rajadurai VS, Chandran S.   +5 more
europepmc   +1 more source

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Inborn errors of carbohydrate metabolism

Best Practice & Research Clinical Gastroenterology, 2010
Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. In this review the focus is set on the current knowledge about clinical symptoms, diagnosis and treatment.
Ertan, Mayatepek, Björn, Hoffmann, Thomas, Meissner   +2 more
openaire   +2 more sources

Metabolic Disorders: Inborn Errors of Carbohydrate Metabolism

DeckerMed Medicine, 2019
The small molecule diseases include the inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central to the cohort of biochemical genetic diseases that are often associated with catastrophic presentations and life-threatening illness during infancy and childhood.
Gerald T Berry, Sameer S Chopra
openaire   +1 more source

Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism

Klinische Wochenschrift, 1979
A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.
A C, Sewell, J, Gehler, J, Spranger
openaire   +2 more sources