A. Fensom

T. Levade, F. Sabourdy, E. Paschke, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

C. Tomasetto, G. Millat, D. Wenger, 2001, American journal of human genetics.

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

A. Drousiotou, P. Ioannou, G. Christopoulos, 2000, Human Genetics.

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

M. Bobrow, P. Green, M. Kaback, 1993, Journal of medical genetics.

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

M. Bobrow, P. Green, I. Ellis, 1991, Journal of medical genetics.

peroxisomal disorder . the clinical phenotype of a generalised Complementation analysis in patients with

S. Steinberg, A. Fensom, 2004 .

Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.

S. Steinberg, A. Fensom, 1996, Journal of medical genetics.

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

S. Steinberg, A. Fensom, C. Ward, 1994, Journal of medical genetics.

Steroid sulphatase activity in trophoblast samples

K. Nicolaides, C. Rodeck, D. Coleman, 1984 .

Fibroblast phosphodiesterase deficiency in Niemann-Pick disease.

P. Benson, A. Fensom, L. Jacobs, 1977, Biochemical and biophysical research communications.

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

A. Munnich, E. Bakker, P. Kamoun, 1995, American journal of medical genetics.

PRENATAL DIAGNOSIS OF ARGININOSUCCINICACIDURIA BY ANALYSIS OF CULTURED CHORIONIC VILLI

A. Fensom, R. Ward, R. Penketh, 1984, The Lancet.

Prenatal Diagnosis of Galactosaemia

P. Benson, A. Fensom, S. Blunt, 1974, British medical journal.

The arylsulphatases of chorionic villi: potential problems in the first‐trimester diagnosis of metachromatic leucodystrophy and Maroteaux‐Lamy disease

C. Rodeck, M. Jackson, R. Warren, 1986, Clinical genetics.

Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.

S. Steinberg, A. Fensom, N. Dennis, 1999, American journal of medical genetics.

Assay of galactose-1-phosphate uridyl transferase in cultured amniotic cells for prenatal diagnosis of galactosaemia.

P. Benson, A. Fensom, 1975, Clinica chimica acta; international journal of clinical chemistry.

Maple syrup urine disease with increased intracranial pressure.

P. Benson, V. D. Der Kaloustian, M. Mikati, 1982, American journal of diseases of children.

Prenatal diagnosis of galactosaemia in six pregnancies' possible complications with rare alleles of the galactose 1‐phosphate uridyl transferase locus

E. Christensen, P. Benson, N. Brandt, 1979, Clinical genetics.

DETECTION OF CYSTIC FIBROSIS WITH PLASMA HYDROLASES

P. Benson, A. Fensom, A. Harris, 1979, The Lancet.

First‐trimester diagnosis of metachromatic leucodystrophy

M. Jackson, K. Nicolaides, A. Fensom, 1988, Clinical genetics.

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.

N. Aronson, H. Park, K. J. Fisher, 1993, The Biochemical journal.

Sialic acid storage disease.

V. Dubowitz, G. Besley, A. Fensom, 1990, Archives of disease in childhood.

Asymptomatic Cholesteryl Ester Storage Disease in an Adult Controlled with Simvastatin

S. A. Iverson, A. Fensom, S. Cairns, 1997, Annals of clinical biochemistry.

Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.

A. Harris, A. Fensom, M. L. Barth, 1993, Human molecular genetics.

Prenatal tests for Sanfilippo disease type B in four pregnancies

V. D. Der Kaloustian, E. Young, J. Mossman, 1983, Prenatal Diagnosis.

Recent advances in the prenatal diagnosis of the mucopolysaccharidoses

P. Benson, A. Fensom, 1994, Prenatal diagnosis.

Diagnosis of classical Morquio's disease:N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi

M. Yuen, A. Fensom, 1985, Journal of Inherited Metabolic Disease.

Leucocyte arylsulphatase A activity and subtypes of chronic schizophrenia

M. Philpot, A. Heavey, M. Jackson, 1990, Acta psychiatrica Scandinavica.

Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha-L-iduronidase.

P. Benson, J. Stirling, A. Fensom, 1979, Lancet.

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.

R. Giugliani, U. Matte, F. Q. Mayer, 2009, Molecular genetics and metabolism.

Prenatal diagnosis of a case of tetrasomy 9p

A. Fensom, A. Berry, S. Blunt, 1989, Prenatal diagnosis.

Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

R. Giugliani, J. Coelho, M. Burin, 1998 .

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

J. Bonham, J. Duley, C. Rittey, 1999, Journal of Inherited Metabolic Disease.

The enzymology of chorionic villi and the first trimester diagnosis of metabolic disorders

A. Fensom, 1987 .

Fibroblast α-galactosidase a activity for identification of Fabry's disease heterozygotes

P. Benson, A. Fensom, L. Jacobs, 1979, Journal of Inherited Metabolic Disease.

Experience with prenatal diagnosis of propionic acidaemia and methylmalonic aciduria.

C. Rodeck, P. Benson, R. Chalmers, 1984, Journal of inherited metabolic disease.

Multiple sulphatase deficiency presenting at birth

Peter Congdon, M. Jackson, A. Fensom, 1986, Clinical genetics.

Letter: Schilder's disease: cholesterol metabolism in cultured fibroblasts.

P. Benson, A. Fensom, J. Wilson, 1976, Archives of disease in childhood.

An adult with a non-neuronopathic form of Niemann_Pick C disease

E. C. Logan, B. Lake, G. Hulman, 1999, Journal of Inherited Metabolic Disease.

Jewish population . mutations in the UK Ashkenazi disease splice and insertion Frequency of the Tay-Sachs

M. Bobrow, P. Green, I. Ellis, 2022 .

Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL-derived cholesterol esterification

S. Steinberg, A. Fensom, D. Mondal, 1996, Journal of Inherited Metabolic Disease.

Prenatal exclusion of homocystinuria (cystathionine β‐synthase deficiency) by assay of phytohaemagglutinin‐stimulated fetal lymphocytes

C. Rodeck, P. Benson, A. Fensom, 1983, Prenatal diagnosis.

The diagnosis of inherited metabolic diseases by microarray gene expression profiling

D. Perrett, J. Taanman, B. Young, 2010, Orphanet journal of rare diseases.

A mild form of mucolipidosis type III in four Baluch siblings

P. Benson, A. Hasilik, A. Fensom, 1993, Clinical genetics.

Corneal clouding in GM1-generalized gangliosidosis.

P. Benson, A. Fensom, A. Babarik, 1976, The British journal of ophthalmology.

Rectal Biopsy or Biochemistry for the Diagnosis of Neurological Disorders

A. Fensom, 1975, Developmental medicine and child neurology.