Literature DB >> 27933355

[Central myelination disorder in classical galactosemia : Case report of two sisters].

C D Reimers1, S Hähnel2, C Terborg3.   

Abstract

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Year:  2017        PMID： 27933355     DOI： 10.1007/s00115-016-0260-4

Source DB:  PubMed          Journal:  Nervenarzt        ISSN： 0028-2804            Impact factor:   1.214


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  11 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.  Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins.

Authors:  H Böhles; D Wenzel; Y S Shin
Journal:  Eur J Pediatr       Date:  1986-10       Impact factor: 3.183

3.  [Free galactose in the cerebrospinal fluid].

Authors:  K Rommel; H Burkhardt
Journal:  Klin Wochenschr       Date:  1968-12-15

Review 4.  Classical galactosaemia revisited.

Authors:  Annet M Bosch
Journal:  J Inherit Metab Dis       Date:  2006-07-11       Impact factor: 4.982

5.  Neurologic complications in galactosemia.

Authors:  T K Koch; K A Schmidt; J E Wagstaff; W G Ng; S Packman
Journal:  Pediatr Neurol       Date:  1992 May-Jun       Impact factor: 3.372

6.  The adult galactosemic phenotype.

Authors:  Susan E Waisbren; Nancy L Potter; Catherine M Gordon; Robert C Green; Patricia Greenstein; Cynthia S Gubbels; Estela Rubio-Gozalbo; Donald Schomer; Corrine Welt; Vera Anastasoaie; Kali D'Anna; Jennifer Gentile; Chao-Yu Guo; Leah Hecht; Roberta Jackson; Bernadette M Jansma; Yijun Li; Va Lip; David T Miller; Michael Murray; Leslie Power; Nicolle Quinn; Frances Rohr; Yiping Shen; Amy Skinder-Meredith; Inge Timmers; Rachel Tunick; Ann Wessel; Bai-Lin Wu; Harvey Levy; Louis Elsas; Gerard T Berry
Journal:  J Inherit Metab Dis       Date:  2011-07-21       Impact factor: 4.982

7.  Outcomes of siblings with classical galactosemia.

Authors:  Joanne Hughes; Stephanie Ryan; Deborah Lambert; Olivia Geoghegan; Anne Clark; Yvonne Rogers; Una Hendroff; Ahmad Monavari; Eilish Twomey; Eileen P Treacy
Journal:  J Pediatr       Date:  2009-02-01       Impact factor: 4.406

8.  Abnormal somatosensory evoked potentials in patients with classic galactosemia: correlation with neurologic outcome.

Authors:  F R Kaufman; E J Horton; P Gott; J A Wolff; M D Nelson; C Azen; F R Manis
Journal:  J Child Neurol       Date:  1995-01       Impact factor: 1.987

9.  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

10.  White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging.

Authors:  Inge Timmers; Hui Zhang; Matteo Bastiani; Bernadette M Jansma; Alard Roebroeck; M Estela Rubio-Gozalbo
Journal:  J Inherit Metab Dis       Date:  2014-10-25       Impact factor: 4.982
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