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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1964 1
1967 1
1968 1
1969 3
1970 2
1972 2
1973 4
1974 1
1975 3
1976 3
1977 1
1978 4
1979 2
1980 3
1981 1
1982 1
1983 1
1984 3
1985 4
1986 2
1987 2
1988 1
1989 1
1990 1
1991 3
1992 2
1993 1
1994 3
1995 1
1998 2
1999 4
2001 2
2002 4
2003 4
2005 1
2006 7
2007 3
2008 4
2009 1
2010 5
2011 2
2012 3
2013 2
2014 2
2015 6
2016 5
2017 4
2018 2
2019 3
2020 6
2021 5
2022 4
2023 5
2024 1

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138 results

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Page 1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urin …
Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Strauss KA, et al. Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16. Mol Genet Metab. 2020. PMID: 31980395 Free article.
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD) …
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase …
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH. Van Calcar SC, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6. Mol Genet Metab. 2020. PMID: 33093005 Free article. Review.
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previous publication of guidelines for maple s …
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guid …
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Frazier DM, et al. Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17. Mol Genet Metab. 2014. PMID: 24881969 Free article.
The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and …
The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodolo …
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Chen T, Lu D, Xu F, Ji W, Zhan X, Gao X, Qiu W, Zhang H, Liang L, Gu X, Han L. Chen T, et al. Clin Chim Acta. 2023 Aug 1;548:117483. doi: 10.1016/j.cca.2023.117483. Epub 2023 Jul 6. Clin Chim Acta. 2023. PMID: 37421976
BACKGROUND: Maple syrup urine disease (MSUD) is a rare disease for which newborn screening (NBS) is feasible but not universally applied in China. ...METHODS: Tandem mass spectrometry-based NBS for MSUD was implemented in January 2003, and diagn …
BACKGROUND: Maple syrup urine disease (MSUD) is a rare disease for which newborn screening (NBS) is feasi …
Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR. Deon M, et al. Int J Dev Neurosci. 2023 Oct;83(6):489-504. doi: 10.1002/jdn.10283. Epub 2023 Jun 20. Int J Dev Neurosci. 2023. PMID: 37340513 Review.
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, as well a …
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid …
Newborn Screening: What Does the Emergency Physician Need to Know?
Lavin LR, Higby N, Abramo T. Lavin LR, et al. Pediatr Emerg Care. 2015 Sep;31(9):661-7; quiz 667-9. doi: 10.1097/PEC.0000000000000549. Pediatr Emerg Care. 2015. PMID: 26335232 Review.
Historically, the most commonly screened disorders are the following: congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease and associated hemoglobinopathies, biotinidase deficiency, galactosemia, cystic fibrosis and phenylketonuria, maple …
Historically, the most commonly screened disorders are the following: congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell …
High Risk Stratified Neonatal Screening.
ICMR Task Force on Inherited Metabolic Disorders. ICMR Task Force on Inherited Metabolic Disorders. Indian J Pediatr. 2018 Dec;85(12):1050-1054. doi: 10.1007/s12098-017-2545-4. Epub 2018 Mar 15. Indian J Pediatr. 2018. PMID: 29542068
Methylmalonic acidemia followed by Propionic acidemia were the most common organic acidemias, while maple syrup urine disease and classic citrullinemia were the common aminoacidopathies. ...The Task Force consitituted by the Indian Council of Medical R …
Methylmalonic acidemia followed by Propionic acidemia were the most common organic acidemias, while maple syrup urine …
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS. Khalifa OA, et al. Am J Med Genet A. 2020 Nov;182(11):2486-2500. doi: 10.1002/ajmg.a.61806. Epub 2020 Aug 19. Am J Med Genet A. 2020. PMID: 32812330
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder due to defects in the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC). ...Except for one patient, all other patients presented with the classic neonatal form …
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder due to defects in the branched …
Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
Karissa P, Simpson T, Dawson SP, Low TY, Tay SH, Nordin FDA, Zain SM, Lee PY, Pung YF. Karissa P, et al. Br J Biomed Sci. 2022 May 19;79:10382. doi: 10.3389/bjbs.2022.10382. eCollection 2022. Br J Biomed Sci. 2022. PMID: 35996497 Free PMC article. Review.
It potentially leads to increased mortality in sufferers. Potential treatments for this disease include dichloroacetate and phenylbutyrate, previously used for other diseases such as cancer and maple syrup urine disease. ...
It potentially leads to increased mortality in sufferers. Potential treatments for this disease include dichloroacetate and phenylbut …
138 results