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Quoted phrase not found in phrase index: "Deficiency of 3-hydroxyacyl-CoA dehydrogenase"
Page 1
Metabolic myopathies.
Tein I. Tein I. Semin Pediatr Neurol. 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6. Semin Pediatr Neurol. 1996. PMID: 8795843 Review.
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenas …
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid ma …
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Tyni T, Pihko H. Tyni T, et al. Acta Paediatr. 1999 Mar;88(3):237-45. doi: 10.1080/08035259950169954. Acta Paediatr. 1999. PMID: 10229030 Review.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is one of the recently discovered defects of mitochondrial fatty acid beta-oxidation. ...Female carriers of LCHAD deficiency are prone to have preeclampsia-related pregnancy co …
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is one of the recently discovered defects o …
Round Table Discussion.
Winter S, Buist NR, Longo N, Armenian SH, Lopaschuk G, Wasilewska A. Winter S, et al. Ann Nutr Metab. 2016;68 Suppl 3:21-23. doi: 10.1159/000448323. Epub 2016 Dec 9. Ann Nutr Metab. 2016. PMID: 27931031 Free article.
There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double-blinded, multicentered and minimally include the following diagnoses: medium-chain acyl coenzyme A (CoA) dehydrogenase deficiency …
There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double- …
The hyperinsulinism/hyperammonemia syndrome.
Palladino AA, Stanley CA. Palladino AA, et al. Rev Endocr Metab Disord. 2010 Sep;11(3):171-8. doi: 10.1007/s11154-010-9146-0. Rev Endocr Metab Disord. 2010. PMID: 20936362 Review.
Gain of function mutations in the mitochondrial enzyme glutamate dehydrogenase (GDH) are responsible for the HI/HA syndrome. GDH is expressed in liver, kidney, brain, and pancreatic beta-cells. ...GDH has also been implicated in another form of HI, short-chain 3- …
Gain of function mutations in the mitochondrial enzyme glutamate dehydrogenase (GDH) are responsible for the HI/HA syndrome. GDH is e …
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T. Rücklová K, et al. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the pre …
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrog …
Neonatal metabolic myopathies.
Tein I. Tein I. Semin Perinatol. 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9. Semin Perinatol. 1999. PMID: 10331465 Review.
Disorders of glycogen, lipid, or mitochondrial metabolism may cause three main clinical syndromes in muscle, namely, (1) progressive weakness with hypotonia (e.g., acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake an …
Disorders of glycogen, lipid, or mitochondrial metabolism may cause three main clinical syndromes in muscle, namely, (1) progressive weaknes …
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Llorca-Cardeñosa A, Català-Mora J, García-Cazorla A, Meavilla S, Castejón-Ponce E. Llorca-Cardeñosa A, et al. Arch Soc Esp Oftalmol. 2016 May;91(5):236-9. doi: 10.1016/j.oftal.2016.01.006. Epub 2016 Feb 16. Arch Soc Esp Oftalmol. 2016. PMID: 26896063 English, Spanish.
CLINICAL CASE: A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological examination. ...
CLINICAL CASE: A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase defici …
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA. den Boer ME, et al. Pediatrics. 2002 Jan;109(1):99-104. doi: 10.1542/peds.109.1.99. Pediatrics. 2002. PMID: 11773547
OBJECTIVES: To assess the mode of presentation, biochemical abnormalities, clinical course, and effects of therapy in patients of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. BACKGROUND: LCHAD deficiency is a rare, autos …
OBJECTIVES: To assess the mode of presentation, biochemical abnormalities, clinical course, and effects of therapy in patients of long-chain …
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
García-Villoria J, Navarro-Sastre A, Fons C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MA, González I, Hernández-Gonzalez A, Fernández C, Campistol J, Delpiccolo C, Cortés N, Messeguer A, Briones P, Ribes A. García-Villoria J, et al. Clin Biochem. 2009 Jan;42(1-2):27-33. doi: 10.1016/j.clinbiochem.2008.10.006. Epub 2008 Oct 25. Clin Biochem. 2009. PMID: 18996107
OBJECTIVES: To search for biochemical and molecular markers for the diagnosis of patients and carriers with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency. DESIGN AND METHODS: Organic acids in urine, MHBD activity in fibroblasts, immunoblotting and mo …
OBJECTIVES: To search for biochemical and molecular markers for the diagnosis of patients and carriers with 2-Methyl-3-hydroxybutyryl-CoA …
165 results