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Literature DB >> 8830174

Galactosaemia: pathogenesis and treatment.

J B Holton¹.

Abstract

Mesh：

Year: 1996 PMID： 8830174 DOI： 10.1007/bf01799341

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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23 in total

1. Deficit of uridine diphosphate galactose in galactosaemia.

Authors: W G Ng; Y K Xu; F R Kaufman; G N Donnell
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

2. Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia.

Authors: C Jakobs; W J Kleijer; H D Bakker; A H van Gennip; H Przyrembel; M F Niermeijer
Journal: Prenat Diagn Date: 1988-11 Impact factor: 3.050

3. The neuropathology of galactosemia. A histopathological and biochemical study.

Authors: C Haberland; M Perou; E G Brunngraber; H Hof
Journal: J Neuropathol Exp Neurol Date: 1971-07 Impact factor: 3.685

4. HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients.

Authors: Y K Xu; F R Kaufman; G N Donnell; T Giudici; O Alfi; W G Ng
Journal: Clin Chim Acta Date: 1995-08-31 Impact factor: 3.786

5. Lens changes in a galactosemic fetus.

Authors: A Vannas; M J Hogan; M S Golbus; I Wood
Journal: Am J Ophthalmol Date: 1975-10 Impact factor: 5.258

Review 6. Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy.

Authors: J B Holton; F de la Cruz; H L Levy
Journal: J Pediatr Date: 1993-12 Impact factor: 4.406

7. The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia.

Authors: N J Keevill; J B Holton; J T Allen
Journal: Clin Chim Acta Date: 1993-11-30 Impact factor: 3.786

Review 8. The role of polyols in the pathophysiology of hypergalactosemia.

Authors: G T Berry
Journal: Eur J Pediatr Date: 1995 Impact factor: 3.183

Review 9. Effects of galactosemia in utero.

Authors: J B Holton
Journal: Eur J Pediatr Date: 1995 Impact factor: 3.183

10. Evidence for cell-surface glycosyltransferases. Their potential role in cellular recognition.

Authors: S Roth; E J McGuire; S Roseman
Journal: J Cell Biol Date: 1971-11 Impact factor: 10.539

7 in total

1. Galactosaemia presenting as congenital pseudoafibrinogenaemia.

Authors: M Ruiz; S Jover; M Armas; M R Duque; C Santana; M L Girós; M D Boleda
Journal: J Inherit Metab Dis Date: 1999-12 Impact factor: 4.982

2. Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group.

Authors: J H Walter; J E Collins; J V Leonard
Journal: Arch Dis Child Date: 1999-01 Impact factor: 3.791

3. Case 2: Newborn with jaundice and "hyperglycemia".

Authors: David Goldfarb; Pranesh Chakraborty
Journal: Paediatr Child Health Date: 2006-12 Impact factor: 2.253

4. Suckling rat brain regional distribution of Na+,K+-atpase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.

Authors: Kyriakoula Marinou; Stylianos Tsakiris; Christi Tsopanakis; Kleopatra H Schulpis; Panagiotis Behrakis
Journal: Metab Brain Dis Date: 2005-03 Impact factor: 3.584