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6 in total

1. Clinical and molecular analysis in Joubert syndrome.

Authors: J E Pellegrino; M W Lensch; M Muenke; P F Chance
Journal: Am J Med Genet Date: 1997-10-03

2. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.

Authors: R G Boot; C E Hollak; M Verhoek; P Sloof; B J Poorthuis; W J Kleijer; R A Wevers; M H van Oers; M M Mannens; J M Aerts; S van Weely
Journal: Hum Mutat Date: 1997 Impact factor: 4.878

3. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.

Authors: N Tayebi; S R Cushner; W Kleijer; E K Lau; P J Damschroder-Williams; B K Stubblefield; J Den Hollander; E Sidransky
Journal: Am J Med Genet Date: 1997-11-28

4. Adult and infantile Gaucher disease in one family: mutational studies and clinical update.

Authors: M Shahinfar; D A Wenger
Journal: J Pediatr Date: 1994-12 Impact factor: 4.406

Review 5. Joubert syndrome: a review.

Authors: J M Saraiva; M Baraitser
Journal: Am J Med Genet Date: 1992-07-01

Review 6. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.

Authors: E Sidransky; D M Sherer; E I Ginns
Journal: Pediatr Res Date: 1992-10 Impact factor: 3.756

6 in total

1 in total

Review 1. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

Authors: M Biegstraaten; I N van Schaik; J M F G Aerts; C E M Hollak
Journal: J Inherit Metab Dis Date: 2008-04-04 Impact factor: 4.750

1 in total