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Items: 7

1.

Beckwith-Wiedemann syndrome in diverse populations.

Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM.

Am J Med Genet A. 2019 Feb 4. doi: 10.1002/ajmg.a.61053. [Epub ahead of print]

PMID:
30719840
2.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT.

Mol Genet Metab. 2019 Jan 22. pii: S1096-7192(18)30742-X. doi: 10.1016/j.ymgme.2019.01.016. [Epub ahead of print]

PMID:
30718057
3.

[Development of a product anti-Shiga toxin for prevention of the hemolytic uremic syndrome].

Hiriart Y, Pardo R, Bukata L, Lauché C, Muñoz L, Colonna M, Goldbaum F, Sanguineti S, Zylberman V.

Medicina (B Aires). 2018;78(2):107-112. Spanish.

4.

Acromegaly: A rare disease?

Bruno OD.

Medicina (B Aires). 2018;78(2):83-85.

5.

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA.

Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.

PMID:
29397290
6.

Risk of Human Papillomavirus Infection in Cancer-Prone Individuals: What We Know.

Khoury R, Sauter S, Butsch Kovacic M, Nelson AS, Myers KC, Mehta PA, Davies SM, Wells SI.

Viruses. 2018 Jan 20;10(1). pii: E47. doi: 10.3390/v10010047. Review.

7.

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

Sacharow SJ, Dudenhausen EE, Lomelino CL, Rodan L, El Achkar CM, Olson HE, Genetti CA, Agrawal PB, McKenna R, Kilberg MS.

Mol Genet Metab. 2018 Mar;123(3):317-325. doi: 10.1016/j.ymgme.2017.12.433. Epub 2017 Dec 20.

PMID:
29279279

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