Literature DB >> 10325771

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

J H Walter1, J E Collins, J V Leonard.   

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Year:  1999        PMID： 10325771      PMCID： PMC1717786          DOI： 10.1136/adc.80.1.93

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  15 in total

1.  Long-term prognosis in galactosaemia: results of a survey of 350 cases.

Authors:  D D Waggoner; N R Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Clouds still gathering over galactosaemia.

Authors:  J B Holton; J V Leonard
Journal:  Lancet       Date:  1994-11-05       Impact factor: 79.321

3.  Lethal femoral-facial syndrome: a case with unusual manifestations.

Authors:  Y Gillerot; C Fourneau; T Willems; L Van Maldergem
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

4.  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

5.  Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

Authors:  M M Honeyman; A Green; J B Holton; J V Leonard
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

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.  Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia.

Authors:  F R Kaufman; M L Loro; C Azen; E Wenz; V Gilsanz
Journal:  J Pediatr       Date:  1993-09       Impact factor: 4.406

8.  Biochemical and molecular studies of 132 patients with galactosemia.

Authors:  W G Ng; Y K Xu; F R Kaufman; G N Donnell; J Wolff; R J Allen; S Koritala; J K Reichardt
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

9.  Verbal dyspraxia in treated galactosemia.

Authors:  C D Nelson; D D Waggoner; G N Donnell; J M Tuerck; N R Buist
Journal:  Pediatrics       Date:  1991-08       Impact factor: 7.124

10.  Long-term outcome in 134 patients with galactosaemia.

Authors:  S Schweitzer; Y Shin; C Jakobs; J Brodehl
Journal:  Eur J Pediatr       Date:  1993-01       Impact factor: 3.183
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  17 in total

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

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

2.  Quality of life in spina bifida: importance of parental hope.

Authors:  H M Kirpalani; P C Parkin; A R Willan; D L Fehlings; P L Rosenbaum; D King; A J Van Nie
Journal:  Arch Dis Child       Date:  2000-10       Impact factor: 3.791

3.  Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

Authors:  K P Coss; P P Doran; C Owoeye; M B Codd; N Hamid; P D Mayne; E Crushell; I Knerr; A A Monavari; E P Treacy
Journal:  J Inherit Metab Dis       Date:  2012-07-03       Impact factor: 4.982

Review 4.  Appropriateness of newborn screening for classic galactosaemia: a systematic review.

Authors:  L Varela-Lema; L Paz-Valinas; G Atienza-Merino; R Zubizarreta-Alberdi; R Vizoso Villares; M López-García
Journal:  J Inherit Metab Dis       Date:  2016-04-26       Impact factor: 4.982

Review 5.  Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.

Authors:  Suzanne W Boyer; Lisa J Barclay; Lindsay C Burrage
Journal:  Nutr Clin Pract       Date:  2015-06-16       Impact factor: 3.080

6.  Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Authors:  Patricia P Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A M Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2012-03-27       Impact factor: 4.982

7.  Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.

Authors:  Tatiana Yuzyuk; Krista Viau; Ashley Andrews; Marzia Pasquali; Nicola Longo
Journal:  J Inherit Metab Dis       Date:  2018-01-19       Impact factor: 4.982

8.  Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?

Authors:  John Widger; Jennifer O'Toole; Olivia Geoghegan; Micheal O'Keefe; Rosemarie Manning
Journal:  J Inherit Metab Dis       Date:  2010-02-12       Impact factor: 4.982

9.  Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.

Authors:  P Schadewaldt; S Killius; L Kamalanathan; H W Hammen; K Strassburger; U Wendel
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

10.  Purpura fulminans in a newborn infant with galactosemia.

Authors:  Aysegul Zenciroglu; Mehmet Sah Ipek; Mustafa Aydin; Abdurrahman Kara; Nurullah Okumus; Mustafa Kilic
Journal:  Eur J Pediatr       Date:  2009-12-17       Impact factor: 3.183
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