Expression of HLA antigens, β2-microglobulin and enzymes by human amniotic epithelial cells
M Adinolfi, CA Akle, I McColl, AH Fensom, L Tansley… - Nature, 1982 - nature.com
A monolayer of epithelial cells, endowed with unique secretory properties, lines the human
amniochorion1, 2. It has been shown that transplantation of these membranes into …
amniochorion1, 2. It has been shown that transplantation of these membranes into …
[PDF][PDF] Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative …
G Millat, C Marçais, C Tomasetto, K Chikh… - The American Journal of …, 2001 - cell.com
To obtain more information of the functional domains of the NPC1 protein, the mutational
spectrum and the level of immunoreactive protein were investigated in skin fibroblasts from …
spectrum and the level of immunoreactive protein were investigated in skin fibroblasts from …
[PDF][PDF] Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
G Millat, K Chikh, S Naureckiene, DE Sleat… - The American Journal of …, 2001 - cell.com
In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation
groups—NPC1, comprising⩾ 95% of the families, and NPC2—has been demonstrated …
groups—NPC1, comprising⩾ 95% of the families, and NPC2—has been demonstrated …
The natural history of Niemann–Pick disease type C in the UK
J Imrie, S Dasgupta, GTN Besley, C Harris… - Journal of inherited …, 2007 - Springer
Niemann–Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage
disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical …
disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical …
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
SJ Steinberg, CP Ward, AH Fensom - Journal of medical genetics, 1994 - jmg.bmj.com
Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an
unknown primary metabolic defect. We have undertaken somatic cell hybridisation …
unknown primary metabolic defect. We have undertaken somatic cell hybridisation …
4‐methylumbelliferyl α‐N‐acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
J Marsh, AH Fensom - Clinical genetics, 1985 - Wiley Online Library
Conditions for assay of a‐JV‐acetylglucosaminidase activity in human cultured fibroblasts,
cultured amniotic fluid cells, leucocytes, serum, plasma and chorionic villi were studied …
cultured amniotic fluid cells, leucocytes, serum, plasma and chorionic villi were studied …
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells
T Levade, HW Moser, AH Fensom, K Harzer… - Journal of the …, 1995 - Elsevier
Farber's lipogranulomatosis is an inborn lipid storage disease characterized by tissue
accumulation of ceramide due to deficient activity of lysosomal ceramidase. Symptoms …
accumulation of ceramide due to deficient activity of lysosomal ceramidase. Symptoms …
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases
P Kamoun, AH Fensom, YS Shin… - American journal of …, 1995 - Wiley Online Library
A European survey of prenatal diagnosis cases involving urea cycle diseases was
performed. Citrullinemia was the most frequently investigated disease (108 cases). Other …
performed. Citrullinemia was the most frequently investigated disease (108 cases). Other …
Transplantation of amniotic epithelial membranes in patients with mucopolysaccharidoses.
C Akle, I McColl, M Dean, M Adinolfi… - Experimental and …, 1985 - europepmc.org
This paper reports the biochemical results of transplanting human amniotic epithelial cells in
3 children with Hunter's and 2 with Hurler's disease. A transient and modest increase of …
3 children with Hunter's and 2 with Hurler's disease. A transient and modest increase of …
Prenatal diagnosis of Farber's disease
AH Fensom, BRG Neville, AE Moser, PF Benson… - The Lancet, 1979 - Elsevier
Two pregnancies at risk for Farber's disease were monitored with amniocentesis at 15 and
16 weeks' gestation. In the first pregnancy tested, cultured amniotic-cell ceramidase activity …
16 weeks' gestation. In the first pregnancy tested, cultured amniotic-cell ceramidase activity …