P. Sharp

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Pex13 Inactivation in the Mouse Disrupts Peroxisome Biogenesis and Leads to a Zellweger Syndrome Phenotype

G. Kay, D. Crane, C. Paterson, 2003, Molecular and Cellular Biology.

Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry.

P. Meikle, P. Whitfield, P. Sharp, 2001, Journal of lipid research.

Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes.

P. Meikle, J. Hopwood, P. Whitfield, 2005, Clinical chemistry.

Molecular Species of Phosphatidylcholine Containing Very Long Chain Fatty Acids in Human Brain: Enrichment in X‐Linked Adrenoleukodystrophy Brain and Diseases of Peroxisome Biogenesis Brain

D. Johnson, A. Poulos, P. Sharp, 1991, Journal of neurochemistry.

Accumulation and defective β‐oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants

A. Poulos, H. Singh, B. Paton, 1986, Clinical genetics.

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: Plasma changes and skin fibroblast phytanic acid oxidase

D. Danks, A. Fellenberg, A. Poulos, 1985, Human Genetics.

Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.

P. Meikle, D. Johnson, P. Whitfield, 2001, Molecular genetics and metabolism.

N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.

J. Fletcher, E. Ranieri, S. Byers, 2016, Molecular genetics and metabolism.

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

S. Ferdinandusse, S. Denis, H. Waterham, 2010, Journal of Medical Genetics.

FIRST‐TRIMESTER DIAGNOSIS OF SMITH–LEMLI–OPITZ SYNDROME

E. Haan, J. Fletcher, T. Khong, 1997, Prenatal Diagnosis.

X-linked adrenoleukodystrophy: the Australasian experience.

A. Poulos, E. Kirk, B. Carey, 1998, American journal of medical genetics.

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

A. Poulos, E. Robertson, W. Carey, 1994, Prenatal diagnosis.

The occurrence of polyenoic very long chain fatty acids with greater than 32 carbon atoms in molecular species of phosphatidylcholine in normal and peroxisome-deficient (Zellweger's syndrome) brain.

D. Johnson, A. Poulos, C. Easton, 1988, The Biochemical journal.

Detection of a homologous series of C26-C38 polyenoic fatty acids in the brain of patients without peroxisomes (Zellweger's syndrome).

D. Johnson, A. Fellenberg, A. Poulos, 1986, The Biochemical journal.

EVALUATION OF THREE SEROLOGICAL TESTS FOR THE DIAGNOSIS OF HYDATID DISEASE

P. Sharp, V. Kertesz, P. Roberts, 1979, The Medical journal of Australia.

Caprine Mucopolysaccharidosis‐IIID: Clinical, Biochemical, Morphological and Immunohistochemical Characteristics

J. Alroy, J. Render, J. Hopwood, 1998, Journal of neuropathology and experimental neurology.

Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients.

D. Johnson, K. Beckman, A. Fellenberg, 1988, The Journal of pediatrics.

Antenatal diagnosis of infantile Refsum's disease

B. Poll-The, A. Poulos, J. Saudubray, 1985, Clinical genetics.

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

D. Johnson, A. Poulos, C. Easton, 1993, The Biochemical journal.

Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.

B. A. Fong, P. Meikle, J. Hopwood, 2002, Molecular genetics and metabolism.

Very long chain fatty acids in X‐linked adrenoleukodystrophy brain after treatment with Lorenzo's oil

K. Beckman, A. Poulos, R. Gibson, 1994, Annals of neurology.

Glyceryl ethers in peroxisomal disease

D. Johnson, K. Beckman, A. Poulos, 1991, Clinical genetics.

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

A. Poulos, M. Whiting, P. Sharp, 1984, Clinical genetics.

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

A. Poulos, E. Robertson, J. Manson, 1988, European Journal of Pediatrics.

Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease

A. Poulos, P. Sharp, 1984, Neurology.

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

B. Poll-The, A. Poulos, E. Christensen, 1986, European Journal of Pediatrics.

Plasma polyenoic very‐long‐chain fatty acids in peroxisomal disease

D. Johnson, A. Poulos, P. Sharp, 1989, Neurology.

Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.

D. Crane, A. Poulos, B. Paton, 1996, The Journal of clinical investigation.

Inherited Peroxisomal Disorders: Defects in the Oxidation of Very Long Chain Fatty Acids and Phytanic Acid

A. Fellenberg, A. Poulos, David W. Johnson, 1987 .

Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

D. Johnson, A. Fellenberg, A. Poulos, 1988, European Journal of Pediatrics.

Very long-chain fatty acids in peroxisomal disease.

D. Johnson, K. Beckman, B. S. Robinson, 1992, Advances in experimental medicine and biology.

Simple mass spectrometric differentiation of the n-3, n-6 and n-9 series of methylene interrupted polyenoic acids

A. Fellenberg, A. Poulos, David W. Johnson, 1987 .

The occurrence of polyenoic fatty acids with greater than 22 carbon atoms in mammalian spermatozoa.

D. Johnson, A. Fellenberg, A. Poulos, 1986, The Biochemical journal.

PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress

D. Crane, B. Ahlemeyer, E. Baumgart-Vogt, 2010, Disease Models & Mechanisms.

Structure and lipid distribution of polyenoic very-long-chain fatty acids in the brain of peroxisome-deficient patients (Zellweger syndrome).

D. Johnson, A. Fellenberg, A. Poulos, 1987, The Biochemical journal.

Human Mucopolysaccharidosis IIID: Clinical, Biochemical, Morpholgical and Immunohistochemical Characteristics

D. Sillence, E. Alvord, J. Alroy, 1997, Journal of neuropathology and experimental neurology.

Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.

J. Fletcher, E. Ranieri, S. Byers, 2020, Molecular genetics and metabolism.

Agranulocytosis and citrobacter infection associated with jamu, a herbal remedy containing phenylbutazone.

Andrew Norris, J. Paul, J. R. Duncan, 2005, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D‐bifunctional protein deficiency

A. Pollard, B. Paton, P. Sharp, 2002, Prenatal diagnosis.

Isolated autism is not an indication for Smith–Lemli–Opitz syndrome biochemical testing

J. Fletcher, E. Ranieri, P. Kaub, 2021, Journal of paediatrics and child health.

FIRST‐TRIMESTER DIAGNOSIS OF SMITH–LEMLI–OPITZ SYNDROME

E. Haan, J. Fletcher, T. Khong, 1997, Prenatal diagnosis.

Pax genes and their role in organogenesis. Discussion

P. Gruss, M. Busslinger, A. Mansouri, 1999 .

PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress

D. Crane, B. Ahlemeyer, E. Baumgart-Vogt, 2010, Disease Models & Mechanisms.

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

S. Ferdinandusse, S. Denis, H. Waterham, 2010, Journal of Medical Genetics.

PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress

D. Crane, B. Ahlemeyer, Sharp, 2010, Disease Models & Mechanisms.