A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine-Reference-Cited by-同舟云学术

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A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine

Published:1997-08 Issue:4 Volume:20 Page:549-555
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Manis F. R.¹²,Cohn L. B.¹²,McBride-Chang C.¹²,Wolff J. A.³,Kaufman F. R.⁴²

Affiliation:

1. ; Department of Psychology; University of Southern California; USA

2. ; Children's Hospital Los Angeles; Los Angeles CA USA

3. ; Department of Pediatrics and Genetics, Waisman Center; University of Wisconsin; Madison Wisconsin USA

4. ; Department of Pediatrics; University of Southern California; USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005357622551/fullpdf

Reference15 articles.

1. Progressive cerebellar and extrapyramidal motor disturbances in galactosemic twins;Bohles;Eur J Pediatr,1986

2. The neuropathology of galactosemia;Haberlan;J Neuropathol Exp Neurol,1991

3. Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance;Irons;J Pediatr,1985

4. Cognitive functioning, neurologic sequelae and imaging in classical galactosemia;Kaufman;Eur J Pediatr,1995

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1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review;Frontiers in Genetics;2024-02-15

2. Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients;JIMD Reports;2024-01-09

3. Long-term complications in classic galactosemia are not progressive;Molecular Genetics and Metabolism;2023-11

4. Pathophysiology of long-term complications in classic galactosemia: What we do and do not know;Molecular Genetics and Metabolism;2022-09

5. Clinical, molecular and glycophenotype insights in SLC39A8-CDG;Orphanet Journal of Rare Diseases;2021-07-10

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