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Quoted phrase not found in phrase index: "Neurometabolic disorder due to serine deficiency"
Page 1
Serine-deficiency syndromes.
de Koning TJ, Klomp LW. de Koning TJ, et al. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Curr Opin Neurol. 2004. PMID: 15021249 Review.
PURPOSE OF REVIEW: Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by defects in the biosynthesis of the amino acid L-serine. In contrast to most neurometabolic disorders, serine- …
PURPOSE OF REVIEW: Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by …
Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.
Lim YT, Mankad K, Kinali M, Tan AP. Lim YT, et al. Neuropediatrics. 2020 Feb;51(1):6-21. doi: 10.1055/s-0039-1698422. Epub 2019 Oct 21. Neuropediatrics. 2020. PMID: 31634934 Review.
Inherited neurotransmitter disorders are rare neurometabolic conditions which encompass genetic disorders of neurotransmitter metabolism or transport. ...In this review paper, we aim to bring together current knowledge of neuroimaging phenotypes associated wi …
Inherited neurotransmitter disorders are rare neurometabolic conditions which encompass genetic disorders of neurotrans …
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.
Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebral folate deficiency, and deficiency of the folate receptor alpha, leading to an isolated cerebral folate deficiency as …
Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebr …
Continuing education in neurometabolic disorders--serine deficiency disorders.
de Koning TJ, Poll-The BT, Jaeken J. de Koning TJ, et al. Neuropediatrics. 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. Neuropediatrics. 1999. PMID: 10222452 Review.
Serine deficiency disorders comprise a new group of inborn errors of serine metabolism. ...The clinical symptoms respond well to amino acid replacement therapy. So far, three serine deficiency disorders have been reported; 3-phosph …
Serine deficiency disorders comprise a new group of inborn errors of serine metabolism. ...The clinical symptoms …
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S, Simsek E, Yilmaz S, Durmaz A, Serin HM, Gokben S. Kanmaz S, et al. Acta Neurol Belg. 2023 Feb;123(1):121-127. doi: 10.1007/s13760-021-01700-7. Epub 2021 May 17. Acta Neurol Belg. 2023. PMID: 34002331
Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate re …
Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active for …
Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
Marchesani F, Michielon A, Viale E, Bianchera A, Cavazzini D, Pollegioni L, Murtas G, Mozzarelli A, Bettati S, Peracchi A, Campanini B, Bruno S. Marchesani F, et al. Biomolecules. 2023 Aug 4;13(8):1219. doi: 10.3390/biom13081219. Biomolecules. 2023. PMID: 37627284 Free PMC article.
In humans, the phosphorylated pathway (PP) converts the glycolytic intermediate D-3-phosphoglycerate (3-PG) into L-serine through the enzymes 3-phosphoglycerate dehydrogenase, phosphoserine aminotransferase (PSAT) and phosphoserine phosphatase. From the pathogenic point of …
In humans, the phosphorylated pathway (PP) converts the glycolytic intermediate D-3-phosphoglycerate (3-PG) into L-serine through the …
An update on serine deficiency disorders.
van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ. van der Crabben SN, et al. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6. J Inherit Metab Dis. 2013. PMID: 23463425
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. ...Prompt recognition of affected patients is important, since serine deficiency disorders are treata …
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine bios …
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Lamari F, Mochel F, Sedel F, Saudubray JM. Lamari F, et al. J Inherit Metab Dis. 2013 May;36(3):411-25. doi: 10.1007/s10545-012-9509-7. Epub 2012 Jul 20. J Inherit Metab Dis. 2013. PMID: 22814679 Review.
Infantile epilepsy has been reported in GM3 synthetase deficiency. Spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larsson syndrome caused by fatty aldehyde dehydrogenase defic …
Infantile epilepsy has been reported in GM3 synthetase deficiency. Spastic quadriplegia with ichthyosis and intellectual disability a …
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, McFarland R, Taylor RW. Nesbitt V, et al. Dev Med Child Neurol. 2012 Jun;54(6):500-6. doi: 10.1111/j.1469-8749.2012.04224.x. Epub 2012 Feb 27. Dev Med Child Neurol. 2012. PMID: 22364517 Free article. Review.
Mitochondrial respiratory chain diseases represent one of the most common inherited neurometabolic disorders of childhood, affecting a minimum of 1 in 7500 live births. The marked clinical, biochemical, and genetic heterogeneity means that accurate genetic counselli …
Mitochondrial respiratory chain diseases represent one of the most common inherited neurometabolic disorders of childhood, aff …
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
Haliloğlu G, Vezir E, Baydar L, Onol S, Sivri S, Coşkun T, Topçu M. Haliloğlu G, et al. Turk J Pediatr. 2012 Jan-Feb;54(1):52-8. Turk J Pediatr. 2012. PMID: 22397043
Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency syndromes, glycine encephalopathy, cerebral folate deficiency, neonatal vitamin-responsive epileptic encephalopathies, disorder …
Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency …
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