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Items: 1 to 20 of 176

1.

Verbal dyspraxia and galactosemia.

Webb AL, Singh RH, Kennedy MJ, Elsas LJ.

Pediatr Res. 2003 Mar;53(3):396-402.

PMID:
12595586
2.

Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.

Barbouth DS, Velazquez DL, Konopka S, Wilkinson JJ, Carver VH, Elsas LJ.

Pediatr Res. 2007 Dec;62(6):720-4.

PMID:
17957157
3.

Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.

Ning C, Reynolds R, Chen J, Yager C, Berry GT, Leslie N, Segal S.

Mol Genet Metab. 2001 Apr;72(4):306-15.

PMID:
11286504
4.

Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.

Ficicioglu C, Hussa C, Gallagher PR, Thomas N, Yager C.

Clin Chem. 2010 Jul;56(7):1177-82. doi: 10.1373/clinchem.2010.144097. Epub 2010 May 20.

5.

Outcomes analysis of verbal dyspraxia in classic galactosemia.

Robertson A, Singh RH, Guerrero NV, Hundley M, Elsas LJ.

Genet Med. 2000 Mar-Apr;2(2):142-8.

PMID:
11397328
6.

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.

Palmieri M, Mazur A, Berry GT, Ning C, Wehrli S, Yager C, Reynolds R, Singh R, Muralidharan K, Langley S, Elsas L 2nd, Segal S.

Metabolism. 1999 Oct;48(10):1294-302.

PMID:
10535394
7.

Risk factors for premature ovarian failure in females with galactosemia.

Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ 2nd.

J Pediatr. 2000 Dec;137(6):833-41.

PMID:
11113841
8.

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

Krabbi K, Uudelepp ML, Joost K, Zordania R, ├Ľunap K.

Mol Genet Metab. 2011 Jul;103(3):249-53. doi: 10.1016/j.ymgme.2011.03.023. Epub 2011 Apr 2.

PMID:
21501963
9.

Quantitative assessment of whole body galactose metabolism in galactosemic patients.

Berry GT, Nissim I, Gibson JB, Mazur AT, Lin Z, Elsas LJ, Singh RH, Klein PD, Segal S.

Eur J Pediatr. 1997 Aug;156 Suppl 1:S43-9.

PMID:
9266215
10.

Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.

Berry GT, Singh RH, Mazur AT, Guerrero N, Kennedy MJ, Chen J, Reynolds R, Palmieri MJ, Klein PD, Segal S, Elsas LJ 2nd.

Pediatr Res. 2000 Sep;48(3):323-8.

PMID:
10960497
11.

Outcomes of siblings with classical galactosemia.

Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP.

J Pediatr. 2009 May;154(5):721-6. doi: 10.1016/j.jpeds.2008.11.052. Epub 2009 Feb 1.

PMID:
19181333
12.

Classic Galactosemia and Clinical Variant Galactosemia.

Berry GT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Feb 4 [updated 2017 Mar 9].

13.
14.

Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.

Ning C, Reynolds R, Chen J, Yager C, Berry GT, McNamara PD, Leslie N, Segal S.

Pediatr Res. 2000 Aug;48(2):211-7.

PMID:
10926297
16.

In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.

Berry GT, Nissim I, Mazur AT, Elsas LJ, Singh RH, Klein PD, Gibson JB, Lin Z, Segal S.

Biochem Mol Med. 1995 Dec;56(2):158-65.

PMID:
8825079
17.

Stable-isotope dilution analysis of galactose metabolites in human erythrocytes.

Schadewaldt P, Kamalanathan L, Hammen HW, Wendel U.

Rapid Commun Mass Spectrom. 2003;17(24):2833-8.

PMID:
14673834
19.

Two familial cases of high blood galactose of unknown aetiology.

Brunetti-Pierri N, Opekun AR, Craigen WJ.

J Inherit Metab Dis. 2006 Dec;29(6):762. Epub 2006 Sep 21.

PMID:
16988899
20.

Prevention of a molecular misdiagnosis in galactosemia.

Barbouth D, Slepak T, Klapper H, Lai K, Elsas LJ.

Genet Med. 2006 Mar;8(3):178-82.

PMID:
16540753

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