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Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome

Journal of intellectual disability research, 2010-10, Vol.54 (10), p.929-937

2010

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Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

Journal of paediatrics and child health, 2006-05, Vol.42 (5), p.263-267

2006

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Abnormal protein glycoforms in Prader-Willi syndrome

Journal of intellectual disability research, 2008-10, Vol.52 (10), p.812-812

2008

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Adult‐onset arginase deficiency

Journal of inherited metabolic disease, 1998-08, Vol.21 (6), p.677-678

1998

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Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation

European journal of pediatrics, 1999-10, Vol.158 (10), p.794-795

1999

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21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia

Journal of Pediatric Endocrinology and Metabolism, 2009-02, Vol.22 (2), p.127-142

2009

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Alcoholic liver disease: A clinical series in an Australian private practice

Journal of gastroenterology and hepatology, 2001-10, Vol.16 (10), p.1138-1143

2001

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ORIGINAL ARTICLE: Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

Journal of paediatrics and child health, 2006-05, Vol.42 (5), p.263-267

2006

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Exocrine pancreatic dysfunction in malnourished Australian aboriginal children

Medical journal of Australia, 1991-01, Vol.154 (1), p.45-48

1991

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Newborn screening for cystic fibrosis using an enzyme linked immunoabsorbent assay (ELISA) technique

Clinica chimica acta, 1988-02, Vol.171 (2), p.257-261

1988

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Carnitine in dried blood spots: a method suitable for neonatal screening

Clinica chimica acta, 1991-02, Vol.197 (1), p.27-33

1991

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Development of a protocol for newborn screening for disorders of the galactose metabolic pathway

Journal of inherited metabolic disease, 1986-01, Vol.9 (1), p.99-104

1986

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WITHDRAWN: NaS1 sulfate transporter is linked to hyposulfatemia and longevity

Biochemical and biophysical research communications, 2010-11

2010

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Monoclonal antibody-based enzyme immunoassay for trypsinogen in neonatal screening for cystic fibrosis

The Lancet (British edition), 1987-04, Vol.1 (8537), p.826-827

1987

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Register of chromosomal abnormalities in Queensland

Medical journal of Australia, 1983-08, Vol.2 (4), p.186-189

1983

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Evaluation of Growth and Changes in Body Composition Following Neonatal Diagnosis of Cystic Fibrosis

Journal of pediatric gastroenterology and nutrition, 1991-07, Vol.13 (1), p.52-58

1991

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Factors Influencing Referrals for Prenatal Cytogenetic Diagnosis

Australian & New Zealand journal of obstetrics & gynaecology, 1984-08, Vol.24 (3), p.198-201

1984

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Krebs cycle anions in metabolic acidosis

Critical care (London, England), 2005-10, Vol.9 (5), p.E23-E23

2005

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Screening for cystic fibrosis: use of ΔF508 mutation

The Lancet (British edition), 1990-04, Vol.335 (8694), p.925-926

1990

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Determining the fetal scalp lactate level that indicates the need for intervention in labour

Australian & New Zealand journal of obstetrics & gynaecology, 2004-12, Vol.44 (6), p.549-552

2004

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Neonatal screening and an intensive management programme for galactosaemia: early evidence of benefits

Medical journal of Australia, 1988-07, Vol.149 (1), p.21-25

1988

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Detection of knee joint diseases using acoustical pattern recognition technique

Journal of biomechanics, 1976, Vol.9 (3), p.111,IN1,113-112,IN4,114

1976

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Evaluation of photoscreener instruments in a childhood population: 1. Otago photoscreener and Dortmans videophotorefractor

Australian and New Zealand journal of ophthalmology, 1996-11, Vol.24 (4), p.347-355

1996

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An electro-acoustical technique for the detection of knee joint noise

Medical research engineering, 1976, Vol.12 (1), p.18

1976

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Evaluation of Growth and Changes in Body Composition Following Neonatal Diagnosis of Cystic Fibrosis

Journal of pediatric gastroenterology and nutrition, 1991-07, Vol.13 (1), p.52-58

1991

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Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome

Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

Abnormal protein glycoforms in Prader-Willi syndrome

Adult‐onset arginase deficiency

Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation

21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia

Alcoholic liver disease: A clinical series in an Australian private practice

ORIGINAL ARTICLE: Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

Exocrine pancreatic dysfunction in malnourished Australian aboriginal children

Newborn screening for cystic fibrosis using an enzyme linked immunoabsorbent assay (ELISA) technique

Carnitine in dried blood spots: a method suitable for neonatal screening

Development of a protocol for newborn screening for disorders of the galactose metabolic pathway

WITHDRAWN: NaS1 sulfate transporter is linked to hyposulfatemia and longevity

Monoclonal antibody-based enzyme immunoassay for trypsinogen in neonatal screening for cystic fibrosis

Register of chromosomal abnormalities in Queensland

Evaluation of Growth and Changes in Body Composition Following Neonatal Diagnosis of Cystic Fibrosis

Factors Influencing Referrals for Prenatal Cytogenetic Diagnosis

Krebs cycle anions in metabolic acidosis

Screening for cystic fibrosis: use of ΔF508 mutation

Determining the fetal scalp lactate level that indicates the need for intervention in labour

Neonatal screening and an intensive management programme for galactosaemia: early evidence of benefits

Detection of knee joint diseases using acoustical pattern recognition technique

Evaluation of photoscreener instruments in a childhood population: 1. Otago photoscreener and Dortmans videophotorefractor

An electro-acoustical technique for the detection of knee joint noise

Evaluation of Growth and Changes in Body Composition Following Neonatal Diagnosis of Cystic Fibrosis

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