Philip J. Lee

发表

HER2 Status and Benefit from Adjuvant Trastuzumab in Breast Cancer

A. Chaudhuri, R. Lachmann, G. Fiermonte, 2008 .

An adult with type 2 citrullinemia presenting in Europe.

A. Chaudhuri, R. Lachmann, G. Fiermonte, 2008, The New England journal of medicine.

Glycogen storage disease type I: pathophysiology of liver adenomas

Philip J. Lee, P. Lee, 2002, European Journal of Pediatrics.

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1999, European Journal of Human Genetics.

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events: Natural History Data From the Fabry Registry

J. Politei, K. Sims, Philip J. Lee, 2009, Stroke.

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

R. Desnick, W. Wilcox, Philip J. Lee, 2004, American journal of human genetics.

Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement

S. Brodie, C. Wanner, C. Eng, 2006, Genetics in Medicine.

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.

J. Charrow, R. Desnick, W. Wilcox, 2007, Journal of the American Society of Nephrology : JASN.

The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy.

A. Keren, P. Elliott, A. Mehta, 2008, Journal of the American College of Cardiology.

Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

Manesh R. Patel, Philip J. Lee, S. Waldek, 2009, Genetics in Medicine.

The management of familial hypercholesterolaemia in childhood

Philip J. Lee, P. Lee, 2002 .

Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III.

D. Pennell, R. Mohiaddin, J. Moon, 2003, Circulation.

The regulation of growth in glycogen storage disease type 1

P. Hindmarsh, D. Matthews, J. Leonard, 2003, Clinical endocrinology.

A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy.

M. Sheppard, P. Elliott, P. Cane, 2010, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Pregnancy issues in inherited metabolic disorders

Philip J. Lee, P. Lee, 2006, Journal of Inherited Metabolic Disease.

Vascular Outcome in Patients With Homocystinuria due to Cystathionine &bgr;-Synthase Deficiency Treated Chronically: A Multicenter Observational Study

G. Boers, D. Wilcken, Philip J. Lee, 2001, Arteriosclerosis, thrombosis, and vascular biology.

Glomerular and tubular function in glycogen storage disease

P. Hindmarsh, J. Leonard, R. Dalton, 1995, Pediatric Nephrology.

Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine.

Philip J. Lee, F. Maillot, D. W. Morley, 2008, The American journal of clinical nutrition.

Bone mineralisation in type 1 glycogen storage disease

N. Bishop, J. Leonard, M. Fewtrell, 1995, European Journal of Pediatrics.

Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome.

S. Moestrup, P. Verroust, C. Kelleher, 2002, Journal of the American Society of Nephrology : JASN.

Evidence for motor axon depolarization in Fabry disease

A. Mehta, H. Bostock, Philip J. Lee, 2005, Muscle & nerve.

Pregnancy and its management in women with GSD type III - a single centre experience

P. Elliott, R. Lachmann, E. Murphy, 2012, Journal of Inherited Metabolic Disease.

Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries

C. Stanley, D. A. Weinstein, Philip J. Lee, 2010, Journal of Inherited Metabolic Disease.