ArticleArchives of disease in childhood. Fetal and neonatal edition2000
Type 2 Gaucher disease: the collodion baby phenotype revisited.
Article in Archives of disease in childhood. Fetal and neonatal edition, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis.Orphanet journal of rare diseases · 2026Article
- Animal Models for the Study of Gaucher Disease.International journal of molecular sciences · 2023Review
- Glucocerebrosidase mutations and Parkinson disease.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Review
- Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu.The British journal of dermatology · 2022Article
- A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.Metabolic brain disease · 2022Article
- Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2.Frontiers in neurology · 2022Article
- Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.Life (Basel, Switzerland) · 2021Article
- Sphingolipid lysosomal storage diseases: from bench to bedside.Lipids in health and disease · 2021Review
- The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.Neurology · 2020Article
- Glucocerebrosidase: Functions in and Beyond the Lysosome.Journal of clinical medicine · 2020Review
- A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations.Frontiers in pediatrics · 2019Article
- Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.American journal of medical genetics. Part A · 2017Article
- In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling.Journal of lipid research · 2017Article
- Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.BMC medical genetics · 2017Article
- Variants associated with Gaucher disease in multiple system atrophy.Annals of clinical and translational neurology · 2015Article
- The clinical management of Type 2 Gaucher disease.Molecular genetics and metabolism · 2015Review
- A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Journal of community genetics · 2015Article
- Gaucher disease.Journal of clinical and experimental hepatology · 2014Review
- Recognition and diagnosis of neuro-ichthyotic syndromes.Seminars in neurology · 2012Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper details the clinical and molecular characterisation of 6 cases of type 2 Gaucher disease presenting with the collodion baby phenotype. The identified mutant glucocerebrosidase alleles include two novel mutations (S196P and R131L) and two rare point mutations (R120W and R257Q), as well as alleles resulting from recombination with the nearby glucocerebrosidase pseudogene. There is significant genotypic heterogeneity in this rare subset of patients with type 2 Gaucher disease. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis in the newborn period.
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