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Prevalence of lysosomal storage disorders

JAMA : the journal of the American Medical Association, 1999-01, Vol.281 (3), p.249

1999

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Type 2 Gaucher disease: the collodion baby phenotype revisited

Archives of disease in childhood. Fetal and neonatal edition, 2000-03, Vol.82 (2), p.F163-166

2000

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Importance of the Glycosylation and Polyadenylation Variants in Metachromatic Leukodystrophy Pseudodeficiency Phenotype

Human molecular genetics, 1998-08, Vol.7 (8), p.1215-1219

1998

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Formic acid is a product of the α-oxidation of fatty acids by human skin fibroblasts : deficiency of formic acid production in peroxisome-deficient fibroblasts

Biochemical journal, 1993-06, Vol.292 (2), p.457-461

1993

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A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

Human genetics, 1999-07, Vol.105 (1-2), p.38-44

1999

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FIRST-TRIMESTER DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME

Prenatal diagnosis, 1997-04, Vol.17 (4), p.355-361

1997

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Prenatal diagnosis of mucolipidosis II-electron microscopy and biochemical evaluation

Prenatal diagnosis, 1999-03, Vol.19 (3), p.252-256

1999

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Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens

The Lancet (British edition), 1997-11, Vol.350 (9088), p.1368-1369

1997

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Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene

Human molecular genetics, 1994-01, Vol.3 (1), p.207-207

1994

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A case of combined Farber and Sandhoff disease

European journal of pediatrics, 1989-04, Vol.148 (6), p.558-562

1989

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Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Prenatal diagnosis, 1994-09, Vol.14 (9), p.813-819

1994

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Adult-onset exercise intolerance due to phosphorylase b kinase deficiency

Journal of clinical neuroscience, 2001-05, Vol.8 (3), p.286-287

2001

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A method for enrichment of hybrid somatic cells: Complementation studies in certain lysosomal enzymopathies

Journal of inherited metabolic disease, 1985-09, Vol.8 (3), p.95-99

1985

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Cystic fibrosis prenatal diagnosis: Confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation

Prenatal diagnosis, 1990-09, Vol.10 (9), p.613-616

1990

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Prenatal diagnosis of zellweger's syndrome by chorionic villus sampling-and a caveat

Prenatal diagnosis, 1986-05, Vol.6 (3), p.227-229

1986

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Identification of a cystic fibrosis mutation : deletion of isoleucine506

Human genetics, 1991-02, Vol.86 (4), p.391-393

1991

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Cystic fibrosis: prenatal diagnosis and carrier detection by DNA analysis

Medical journal of Australia, 1989-08, Vol.151 (3), p.126-131

1989

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The frequency of the common (delta F508) cystic fibrosis mutation in the Australian population

Medical journal of Australia, 1990-03, Vol.152 (6), p.328-328

1990

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Microvillar enzymes in amniotic fluid. Considerations for the prenatal diagnosis of cystic fibrosis

Medical journal of Australia, 1986-01, Vol.144 (2), p.68-71

1986

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Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate

Clinica chimica acta, 1982-04, Vol.120 (3), p.331-340

1982

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Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience

BMJ, 1994-06, Vol.308 (6942), p.1469-1472

1994

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Biochemical diagnosis of cystic fibrosis

Medical journal of Australia, 1983-11, Vol.2 (11), p.528-529

1983

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Prenatal diagnosis of cystic fibrosis

Medical journal of Australia, 1982-10, Vol.2 (7), p.314-314

1982

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INHIBITION OF TAMM-HORSFALL GLYCOPROTEIN INDUCTION OF ALKALINE PHOSPHATASE IN CYSTIC FIBROSIS FIBROBLASTS BY MEDIUM CONDITIONED BY NORMAL CELLS

Australian Journal of Experimental Biology and Medical Science, 1979-04, Vol.57 (2), p.225-230

1979

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Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid

European journal of pediatrics, 1986-12, Vol.145 (6), p.507-510

1986

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Prevalence of lysosomal storage disorders

Type 2 Gaucher disease: the collodion baby phenotype revisited

Importance of the Glycosylation and Polyadenylation Variants in Metachromatic Leukodystrophy Pseudodeficiency Phenotype

Formic acid is a product of the α-oxidation of fatty acids by human skin fibroblasts : deficiency of formic acid production in peroxisome-deficient fibroblasts

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

FIRST-TRIMESTER DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME

Prenatal diagnosis of mucolipidosis II-electron microscopy and biochemical evaluation

Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens

Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene

A case of combined Farber and Sandhoff disease

Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Adult-onset exercise intolerance due to phosphorylase b kinase deficiency

A method for enrichment of hybrid somatic cells: Complementation studies in certain lysosomal enzymopathies

Cystic fibrosis prenatal diagnosis: Confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation

Prenatal diagnosis of zellweger's syndrome by chorionic villus sampling-and a caveat

Identification of a cystic fibrosis mutation : deletion of isoleucine506

Cystic fibrosis: prenatal diagnosis and carrier detection by DNA analysis

The frequency of the common (delta F508) cystic fibrosis mutation in the Australian population

Microvillar enzymes in amniotic fluid. Considerations for the prenatal diagnosis of cystic fibrosis

Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate

Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience

Biochemical diagnosis of cystic fibrosis

Prenatal diagnosis of cystic fibrosis

INHIBITION OF TAMM-HORSFALL GLYCOPROTEIN INDUCTION OF ALKALINE PHOSPHATASE IN CYSTIC FIBROSIS FIBROBLASTS BY MEDIUM CONDITIONED BY NORMAL CELLS

Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid

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