355 related articles for article (PubMed ID: 23842438)
21. [Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].
Han LS; Ye J; Qiu WJ; Zhang HW; Wang Y; Ji WJ; Gao XL; Li XY; Jin J; Gu XF
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):405-9. PubMed ID: 22931933
[TBL] [Abstract][Full Text] [Related]
22. Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen N; Hofmann AD; Schmidt G; Das AM; Illsinger S
Orphanet J Rare Dis; 2017 Dec; 12(1):187. PubMed ID: 29268767
[TBL] [Abstract][Full Text] [Related]
23. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
[TBL] [Abstract][Full Text] [Related]
24. Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC-MS/MS.
Minkler PE; Stoll MSK; Ingalls ST; Hoppel CL
Mol Genet Metab; 2017 Apr; 120(4):363-369. PubMed ID: 28190699
[TBL] [Abstract][Full Text] [Related]
25. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA; Kuijpers MM; Bosch AM; Mulder MF; Gozalbo ER; Visser G; de Vries M; Williams M; Waterham HR; van Spronsen FJ; Schielen PCJI; Derks TGJ
J Inherit Metab Dis; 2019 Sep; 42(5):890-897. PubMed ID: 31012112
[TBL] [Abstract][Full Text] [Related]
26. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Landau YE; Waisbren SE; Chan LM; Levy HL
J Inherit Metab Dis; 2017 Mar; 40(2):209-218. PubMed ID: 28054209
[TBL] [Abstract][Full Text] [Related]
27. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
Hall PL; Wittenauer A; Hagar A
Mol Genet Metab; 2014 Dec; 113(4):274-7. PubMed ID: 25454677
[TBL] [Abstract][Full Text] [Related]
28. Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.
Dong L; Ji C; Xu J; Cui Y
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 51(3):284-289. PubMed ID: 36207830
[TBL] [Abstract][Full Text] [Related]
29. Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
Gramer G; Haege G; Fang-Hoffmann J; Hoffmann GF; Bartram CR; Hinderhofer K; Burgard P; Lindner M
JIMD Rep; 2015; 23():101-12. PubMed ID: 25940036
[TBL] [Abstract][Full Text] [Related]
30. Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.
Mesbah Z; Sing Ho K; Fitzsimons P; Monavari AA; Mayne PD; Crushell E
Ir Med J; 2019 Dec; 112(10):1016. PubMed ID: 32311243
[TBL] [Abstract][Full Text] [Related]
31. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Maier EM; Liebl B; Röschinger W; Nennstiel-Ratzel U; Fingerhut R; Olgemöller B; Busch U; Krone N; v Kries R; Roscher AA
Hum Mutat; 2005 May; 25(5):443-52. PubMed ID: 15832312
[TBL] [Abstract][Full Text] [Related]
32. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Rhead WJ
J Inherit Metab Dis; 2006; 29(2-3):370-7. PubMed ID: 16763904
[TBL] [Abstract][Full Text] [Related]
33. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.
Blois B; Riddell C; Dooley K; Dyack S
J Inherit Metab Dis; 2005; 28(4):551-6. PubMed ID: 15902558
[TBL] [Abstract][Full Text] [Related]
34. Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
Maier EM; Pongratz J; Muntau AC; Liebl B; Nennstiel-Ratzel U; Busch U; Fingerhut R; Olgemöller B; Roscher AA; Röschinger W
Clin Genet; 2009 Aug; 76(2):179-87. PubMed ID: 19780764
[TBL] [Abstract][Full Text] [Related]
35. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM; Leydiker K; Tang H; Feuchtbaum L; Lorey F; Puckett R; Deignan JL; Neidich J; Dorrani N; Chang E; Barshop BA; Cederbaum SD; Abdenur JE; Wang RY
Mol Genet Metab; 2012 May; 106(1):55-61. PubMed ID: 22424739
[TBL] [Abstract][Full Text] [Related]
36. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
Hsu HW; Zytkovicz TH; Comeau AM; Strauss AW; Marsden D; Shih VE; Grady GF; Eaton RB
Pediatrics; 2008 May; 121(5):e1108-14. PubMed ID: 18450854
[TBL] [Abstract][Full Text] [Related]
37. [Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
Huang YL; Tang CF; Liu SC; Sheng HY; Tang F; Jiang X; Zheng RD; Mei HF; Liu L
Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):476-481. PubMed ID: 32521959
[No Abstract] [Full Text] [Related]
38. [Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].
Huang XW; Zhang Y; Yang JB; Hong F; Qian GL; Tong F; Mao HQ; Huang XL; Zhou XL; Yang RL; Zhao ZY
Zhonghua Er Ke Za Zhi; 2016 Dec; 54(12):927-930. PubMed ID: 27938594
[No Abstract] [Full Text] [Related]
39. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Gallant NM; Leydiker K; Wilnai Y; Lee C; Lorey F; Feuchtbaum L; Tang H; Carter J; Enns GM; Packman S; Lin HJ; Wilcox WR; Cederbaum SD; Abdenur JE
Mol Genet Metab; 2017 Nov; 122(3):76-84. PubMed ID: 28711408
[TBL] [Abstract][Full Text] [Related]
40. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
Everard E; Laeremans H; Boemer F; Marie S; Vincent MF; Dewulf JP; Debray FG; De Laet C; Nassogne MC
Eur J Paediatr Neurol; 2024 Mar; 49():60-65. PubMed ID: 38377647
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]