Literature DB >> 11286387

Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation.

P Briones1, M Girós, V Martinez.   

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Year:  2001        PMID： 11286387     DOI： 10.1023/a:1005667024606

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


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  3 in total

1.  Spontaneous pregnancy in a patient with classical galactosaemia.

Authors:  S de Jongh; P Vreken; L IJst; R J Wanders; C Jakobs; H D Bakker
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

Review 2.  Galactosaemia.

Authors:  I B Sardharwalla; J E Wraith
Journal:  Nutr Health       Date:  1987

Review 3.  Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Authors:  L Tyfield; J Reichardt; J Fridovich-Keil; D T Croke; L J Elsas; W Strobl; L Kozak; T Coskun; G Novelli; Y Okano; C Zekanowski; Y Shin; M D Boleda
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878
  3 in total
  8 in total

1.  Pregnancy issues in inherited metabolic disorders.

Authors:  Philip J Lee
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 2.  Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.

Authors:  Mili Thakur; Gerald Feldman; Elizabeth E Puscheck
Journal:  J Assist Reprod Genet       Date:  2017-09-20       Impact factor: 3.412

3.  Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

Authors:  Peter Schadewaldt; Hans-Werner Hammen; Loganathan Kamalanathan; Udo Wendel; Martin Schwarz; Annet M Bosch; Nele Guion; Mirian Janssen; Godfried H J Boers
Journal:  Eur J Pediatr       Date:  2008-09-24       Impact factor: 3.183

4.  Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report.

Authors:  Yves J R Menezo; Maryse Lescaille; Bernard Nicollet; Edouard J Servy
Journal:  J Assist Reprod Genet       Date:  2004-03       Impact factor: 3.412

5.  Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Authors:  W G Ng; Y K Xu; L J Wong; F R Kaufman; N R M Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 6.  Galactose toxicity in animals.

Authors:  Kent Lai; Louis J Elsas; Klaas J Wierenga
Journal:  IUBMB Life       Date:  2009-11       Impact factor: 3.885

7.  Integrated microbiome-metabolome analysis reveals novel associations between fecal microbiota and hyperglycemia-related changes of plasma metabolome in gestational diabetes mellitus.

Authors:  Lina Dong; Lingna Han; Tao Duan; Shumei Lin; Jianguo Li; Xiaojing Liu
Journal:  RSC Adv       Date:  2020-01-09       Impact factor: 3.361

Review 8.  Sweet and sour: an update on classic galactosemia.

Authors:  Ana I Coelho; M Estela Rubio-Gozalbo; João B Vicente; Isabel Rivera
Journal:  J Inherit Metab Dis       Date:  2017-03-09       Impact factor: 4.982
  8 in total

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