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Items: 1 to 20 of 100

1.

Index of suspicion. Case 1: fever, diarrhea, jaundice, and confusion in an 18-year-old male. Case 2: severe anemia in a 6-month-old girl. Case 3: red urine in a 4-month-old boy.

Ku E, Thomas M, Ho CH, Whipple NS, Abdul-Rahman O, Megason GC, Herrington BL, Carmody JB, Charlton JR.

Pediatr Rev. 2014 Mar;35(3):129-35. doi: 10.1542/pir.35-3-129. No abstract available.

PMID:
24585816
2.

A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency.

Murata KY, Sugie H, Nishino I, Kondo T, Ito H.

Muscle Nerve. 2014 Feb;49(2):295-6. doi: 10.1002/mus.24055. No abstract available.

PMID:
23966064
3.

Breath-holding spell and macrocytic anaemia in a toddler.

Ramachandran S, Alessandri A, Price J, Balasubramaniam S.

Br J Haematol. 2014 Jul;166(2):156. doi: 10.1111/bjh.12927. Epub 2014 May 5. No abstract available.

PMID:
24797152
4.

Early presentation of very long chain acyl-CoA dehydrogenase deficiency: nursing action resulting in a positive outcome.

Sedgwick ER.

J Pediatr Nurs. 2013 Jul-Aug;28(4):379-82. doi: 10.1016/j.pedn.2012.11.002. Epub 2012 Dec 10. Review.

PMID:
23238219
5.

Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Yamamoto H, Tachibana D, Tajima G, Shigematsu Y, Hamasaki T, Tanaka A, Koyama M.

J Obstet Gynaecol Res. 2015 Jul;41(7):1126-8. doi: 10.1111/jog.12672. Epub 2015 Feb 6.

PMID:
25655073
6.

A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.

Bu Q, Pan Z.

Indian Pediatr. 2016 Mar;53(3):262. No abstract available.

7.

Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.

Li X, Ding Y, Ma Y, Liu Y, Wang Q, Song J, Yang Y.

Eur J Med Genet. 2015 Mar;58(3):134-9. doi: 10.1016/j.ejmg.2015.01.005. Epub 2015 Jan 31.

PMID:
25652019
8.

Pearson syndrome in a Diamond-Blackfan anemia cohort.

Alter BP.

Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687.

9.

[Mass Screening for Inborn Errors of Metabolism].

Ito T.

Rinsho Byori. 2015 Apr;63(4):441-9. Review. Japanese.

PMID:
26536777
10.

Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.

Takahashi Y, Sano R, Nakajima T, Kominato Y, Kubo R, Takahashi K, Ohshima N, Hirano T, Kobayashi S, Shimada T, Tokue H, Awata S, Hirasawa S, Ishige T.

Forensic Sci Int. 2014 Nov;244:e34-7. doi: 10.1016/j.forsciint.2014.08.031. Epub 2014 Sep 6.

PMID:
25242572
11.

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.

Siu WK, Mak CM, Siu SL, Siu TS, Pang CY, Lam CW, Kwong NS, Chan AY.

Diagn Mol Pathol. 2012 Sep;21(3):184-7. doi: 10.1097/PDM.0b013e31825554d0.

PMID:
22847164
12.

Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report.

Park J, Ryu H, Jang W, Chae H, Kim M, Kim Y, Kim J, Lee JW, Chung NG, Cho B, Suh BK.

Mol Med Rep. 2015 May;11(5):3741-5. doi: 10.3892/mmr.2014.3127. Epub 2014 Dec 22.

PMID:
25543536
13.

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S.

Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15.

14.

Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening.

Ficicioglu C, Hussa C.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S187-90. doi: 10.1007/s10545-009-1143-7. Epub 2009 Apr 4.

PMID:
19333779
15.

Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency.

Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G.

Mol Genet Metab. 2011 May;103(1):96-7. doi: 10.1016/j.ymgme.2011.01.010. Epub 2011 Jan 27.

PMID:
21333574
16.

Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?

Bastin J, Bonnefont JP, Djouadi F, Bresson JL.

J Inherit Metab Dis. 2015 Mar;38(2):371-2. doi: 10.1007/s10545-014-9775-7. Epub 2014 Oct 14. No abstract available.

PMID:
25310995
17.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Sato T, Muroya K, Hanakawa J, Iwano R, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M.

Eur J Pediatr. 2015 Dec;174(12):1593-602. doi: 10.1007/s00431-015-2576-7. Epub 2015 Jun 16. Review.

PMID:
26074369
18.

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A.

Mol Genet Metab. 2014 Apr;111(4):484-92. doi: 10.1016/j.ymgme.2014.01.009. Epub 2014 Jan 23.

PMID:
24503138
19.

Expanded newborn screening in New South Wales: missed cases.

Estrella J, Wilcken B, Carpenter K, Bhattacharya K, Tchan M, Wiley V.

J Inherit Metab Dis. 2014 Nov;37(6):881-7. doi: 10.1007/s10545-014-9727-2. Epub 2014 Jun 27.

PMID:
24970580
20.

[A two-year-old infant with a myopathic form of very-long-chain Acyl-CoA dehydrogenase deficiency].

Ito Y, Nakano K, Shishikura K, Suzuki H, Iida N, Sasaki N, Kimura M, Hasegawa Y, Yamaguchi S, Osawa M.

No To Hattatsu. 2003 Nov;35(6):491-7. Japanese.

PMID:
14631745

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