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Early life events associated with first lactation reproductive performance in southwest Victorian pasture‐based dairy herds

Australian veterinary journal, 2024-03, Vol.102 (3), p.51-59

2024

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General and gender-specific dynamics determining the health status of employed family caregivers

Journal of women & aging, 2022, Vol.34 (1), p.112-122

2022

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CD20-Directed Small Modular Immunopharmaceutical, TRU-015, Depletes Normal and Malignant B Cells

Clinical cancer research, 2009-04, Vol.15 (8), p.2739-2746

2009

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Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

Neurology, 2005-04, Vol.64 (7), p.1255-1257

2005

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Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

Annals of neurology, 2006-03, Vol.59 (3), p.490-498

2006

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Screening of male patients with autism spectrum disorder for creatine transporter deficiency

Neuropediatrics, 2007-12, Vol.38 (6), p.310-312

2007

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Congenital creatine transporter deficiency

Neuropediatrics, 2002-10, Vol.33 (5), p.232-238

2002

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Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis

American journal of respiratory and critical care medicine, 2001-08, Vol.164 (4), p.661-668

2001

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Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Annals of neurology, 2001-03, Vol.49 (3), p.401-404

2001

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Infantile Dilated X-Linked Cardiomyopathy, G4.5 Mutations, Altered Lipids, and Ultrastructural Malformations of Mitochondria in Heart, Liver, and Skeletal Muscle

Laboratory investigation, 2002-03, Vol.82 (3), p.335-344

2002

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Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study

Molecular and cellular biochemistry, 2004-07, Vol.262 (1-2), p.35-39

2004

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Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis genetic and radiographic analysis

Chest, 2002-03, Vol.121 (3), p.61S-61S

2002

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Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells

Journal of medical genetics, 1984-10, Vol.21 (5), p.359-363

1984

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Anticoagulant effects on plasma coenzyme Q(10) estimated by HPLC with coulometric detection

Clinica chimica acta, 2002-04, Vol.318 (1-2), p.127-131

2002

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Membranoproliferative glomerulonephritis and alpha 1-antitrypsin deficiency in children

Pediatrics (Evanston), 1983-01, Vol.71 (1), p.88

1983

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Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver

The Journal of clinical investigation, 1969-04, Vol.48 (4), p.704-715

1969

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Liver glycogenosis and phosphorylase kinase deficiency

American journal of human genetics, 1970-07, Vol.22 (4), p.484-484

1970

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Chorionic Villus Ultrastructure in Type II Glycogen Storage Disease (Pompe's Disease)

The New England journal of medicine, 1991-01, Vol.324 (5), p.342-343

1991

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Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells

The New England journal of medicine, 1984-04, Vol.310 (16), p.1018-1022

1984

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Alpha 1-antitrypsin phenotype: transient cathodal shift in serum of infant girl with urinary cytomegalovirus and fatty liver

Pediatric research, 1982-03, Vol.16 (3), p.192-198

1982

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PiPclifton: a new alpha 1-antitrypsin allele in an American Negro family

Journal of medical genetics, 1981-02, Vol.18 (1), p.43

1981

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Pi Wfinneytown: a new alpha1-antitrypsin allele in an American Negro family

Human heredity, 1982, Vol.32 (4), p.280

1982

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PiZpratt: a new alpha 1-antitrypsin allele in an American Negro family

Human genetics, 1980, Vol.56 (1), p.107

1980

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Pi Ecincinnati: a new alpha 1-antitrypsin allele in three Negro families

Human genetics, 1980, Vol.54 (3), p.361-364

1980

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Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation

American journal of medical genetics, 1996-09, Vol.64 (4), p.531-535

1996

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Early life events associated with first lactation reproductive performance in southwest Victorian pasture‐based dairy herds

General and gender-specific dynamics determining the health status of employed family caregivers

CD20-Directed Small Modular Immunopharmaceutical, TRU-015, Depletes Normal and Malignant B Cells

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

Screening of male patients with autism spectrum disorder for creatine transporter deficiency

Congenital creatine transporter deficiency

Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Infantile Dilated X-Linked Cardiomyopathy, G4.5 Mutations, Altered Lipids, and Ultrastructural Malformations of Mitochondria in Heart, Liver, and Skeletal Muscle

Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study

Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis genetic and radiographic analysis

Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells

Anticoagulant effects on plasma coenzyme Q(10) estimated by HPLC with coulometric detection

Membranoproliferative glomerulonephritis and alpha 1-antitrypsin deficiency in children

Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver

Liver glycogenosis and phosphorylase kinase deficiency

Chorionic Villus Ultrastructure in Type II Glycogen Storage Disease (Pompe's Disease)

Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells

Alpha 1-antitrypsin phenotype: transient cathodal shift in serum of infant girl with urinary cytomegalovirus and fatty liver

PiPclifton: a new alpha 1-antitrypsin allele in an American Negro family

Pi Wfinneytown: a new alpha1-antitrypsin allele in an American Negro family

PiZpratt: a new alpha 1-antitrypsin allele in an American Negro family

Pi Ecincinnati: a new alpha 1-antitrypsin allele in three Negro families

Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation

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