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Items: 10

1.

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.

De Simone L, Capirchio L, Roperto RM, Romagnani P, Sacchini M, Donati MA, de Martino M.

Ital J Pediatr. 2018 Aug 13;44(1):90. doi: 10.1186/s13052-018-0530-9.

2.

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH.

Mol Genet Metab. 2017 Sep;122(1-2):60-66. doi: 10.1016/j.ymgme.2017.06.011. Epub 2017 Jun 29.

3.

Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

Gramer G, Abdoh G, Ben-Omran T, Shahbeck N, Ali R, Mahmoud L, Fang-Hoffmann J, Hoffmann GF, Al Rifai H, Okun JG.

World J Pediatr. 2017 Apr;13(2):136-143. doi: 10.1007/s12519-017-0003-z. Epub 2017 Jan 15.

PMID:
28101774
4.

Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.

Whitaker AM, Thomas NH, Krivitzky LS, Ficicioglu CH.

Appl Neuropsychol Child. 2018 Apr-Jun;7(2):143-149. doi: 10.1080/21622965.2016.1270211. Epub 2017 Jan 10.

PMID:
28071971
5.

Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.

Han B, Cao Z, Tian L, Zou H, Yang L, Zhu W, Liu Y.

Brain Dev. 2016 May;38(5):491-7. doi: 10.1016/j.braindev.2015.10.016. Epub 2015 Nov 10.

PMID:
26563984
6.

Newborn screening for homocystinuria.

Walter JH, Jahnke N, Remmington T.

Cochrane Database Syst Rev. 2015 Oct 1;(10):CD008840. doi: 10.1002/14651858.CD008840.pub4. Review.

PMID:
26423208
7.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
8.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ.

J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12. Review.

9.

Newborn screening programme expanded.

[No authors listed]

Community Pract. 2015 Feb;88(2):5. No abstract available.

PMID:
25720200
10.

Quantitation of sulfur-containing amino acids, homocysteine, methionine and cysteine in dried blood spot from newborn baby by HPLC-fluorescence detection.

Wada M, Kuroki M, Minami Y, Ikeda R, Sekitani Y, Takamura N, Kawakami S, Kuroda N, Nakashima K.

Biomed Chromatogr. 2014 Jun;28(6):810-4. doi: 10.1002/bmc.3142.

PMID:
24861748

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