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1.

Generalized epimerase deficiency galactosemia.

Sarkar M, Bose SS, Mondal G, Chatterjee S.

Indian J Pediatr. 2010 Aug;77(8):909-10. doi: 10.1007/s12098-010-0135-9. Epub 2010 Aug 20.

PMID:
20725869
2.

Diagnosis of inherited disorders of galactose metabolism.

Cuthbert C, Klapper H, Elsas L.

Curr Protoc Hum Genet. 2008 Jan;Chapter 17:Unit 17.5. doi: 10.1002/0471142905.hg1705s56.

PMID:
18428423
3.

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.

Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J.

Mol Genet Metab. 1998 Jan;63(1):26-30.

PMID:
9538513
4.

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.

Garibaldi LR, Canini S, Superti-Furga A, Lamedica G, Filocamo M, Marchese N, Borrone C.

J Pediatr. 1983 Dec;103(6):927-30. No abstract available. Erratum in: J Pediatr 1986 Dec 109(6):1074.

PMID:
6549612
5.

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.

Garibaldi L, Superti-Furga A, Borrone C.

J Pediatr. 1986 Dec;109(6):1074-5. No abstract available.

PMID:
3783336
6.

Issues on universal screening for galactosemia.

Padilla CD, Lam ST.

Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):39-3.

7.

Galactosemia in Thai patient at Phramongkutklao Hospital: a case report.

Boonyawat B, Kamolsilp M, Phavichitr N.

J Med Assoc Thai. 2005 Nov;88 Suppl 3:S275-80.

PMID:
16858969
8.

Epimerase Deficiency Galactosemia.

Fridovich-Keil J, Bean L, He M, Schroer R.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2011 Jan 25 [updated 2013 Oct 24].

9.

Molecular basis of disorders of human galactose metabolism: past, present, and future.

Novelli G, Reichardt JK.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-5. Review.

PMID:
11001796
10.

Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.

Timson DJ, Lindert S.

Gene. 2013 Sep 10;526(2):318-24. doi: 10.1016/j.gene.2013.05.027. Epub 2013 May 31.

11.
12.

Epimerase-deficiency galactosemia is not a binary condition.

Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE, Keenan J, Lamance K, Fridovich-Keil JL.

Am J Hum Genet. 2006 Jan;78(1):89-102. Epub 2005 Nov 14.

13.

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

Holton JB, Gillett MG, MacFaul R, Young R.

Arch Dis Child. 1981 Nov;56(11):885-7.

14.

An interference-free two-step enzyme assay with UPLC-tandem mass spectrometric product measurement for the clinical diagnosis of uridine diphosphate galactose-4-epimerase deficiency.

Chen J, Meyers GA, Bennett MJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2014 May 15;959:5-9. doi: 10.1016/j.jchromb.2014.03.029. Epub 2014 Apr 1.

PMID:
24732214
15.

Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program.

Misumi H, Wada H, Kawakami M, Ninomiya H, Sueishi T, Ichiba Y, Shohmori T.

Clin Chim Acta. 1981 Oct 8;116(1):101-5. No abstract available.

PMID:
7318169
16.

[Galactosemia].

Grodzka Z, Zbieg-Sendecka E.

Probl Med Wieku Rozwoj. 1979;8:70-6. Polish.

PMID:
263529
17.

Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase.

Daude N, Gallaher TK, Zeschnigk M, Starzinski-Powitz A, Petry KG, Haworth IS, Reichardt JK.

Biochem Mol Med. 1995 Oct;56(1):1-7.

PMID:
8593531
18.

On the screening for inborn errors of galactose metabolism.

Vaca G, Sànchez-Corona J, Olivares N, Medina C, Ibarra B, Cantú JM.

Ann Genet. 1983;26(3):191-2.

PMID:
6606384
19.

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL.

Am J Hum Genet. 1997 Sep;61(3):590-8.

20.

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM.

J Inherit Metab Dis. 1998 Jun;21(4):341-50.

PMID:
9700591
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