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1.
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.
J Inherit Metab Dis
; 33 Suppl 3: S113-21, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20151204
2.
Glycerol kinase deficiency in adult hypoglycemic acidemia.
N Engl J Med
; 364(18): 1781-2, 2011 May 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-21542762
3.
[Glycerol kinase deficiency with debut of symptoms in adult age. Unusual cause of coma, metabolic acidosis, hypoglycemia and hypothermia]. / Glycerolkinasbrist med symtomdebut i vuxen ålder. Ovanlig orsak till koma, metabol acidos, hypoglykemi och hypotermi.
Lakartidningen
; 107(40): 2408-10, 2010.
Artículo
en Sueco
| MEDLINE | ID: mdl-21140574
4.
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
Eur J Hum Genet
; 12(6): 424-32, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15026783
5.
Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
J Pediatr Gastroenterol Nutr
; 47(1): 98-101, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18607276
6.
Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
Clin Chem Lab Med
; 41(1): 46-55, 2003 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-12636049
7.
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Mol Genet Metab
; 79(3): 149-59, 2003 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12855219
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