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Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

Nephrology, dialysis, transplantation, 2009-07, Vol.24 (7), p.2102-2111

2009

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Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and -galactosidase A activity

European heart journal, 2010-05, Vol.31 (9), p.1088-1097

2010

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Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.76-84

2017

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Psychological aspects of patients with Fabry disease

Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.745-753

2009

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Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.738-744

2008

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Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

Clinical genetics, 2008-05, Vol.73 (5), p.430-440

2008

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Executive functioning in children and adolescents with phenylketonuria

Clinical genetics, 2007-07, Vol.72 (1), p.13-18

2007

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Chronology of sand ridges and the Late Quaternary evolution of the Etosha Pan, Namibia

Geomorphology (Amsterdam, Netherlands), 2014-01, Vol.204, p.553-563

2014

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Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease

Clinical genetics, 2007-06, Vol.71 (6), p.576-588

2007

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Psychological complications of patients with Gaucher disease

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.99-105

2006

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Periventricular heterotopia associated with chromosome 5p anomalies

Neurology, 2003-03, Vol.60 (6), p.1033

2003

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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

The Journal of clinical investigation, 2001-02, Vol.107 (4), p.495-504

2001

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Galactosaemia: Early treatment with an elemental formula

Journal of inherited metabolic disease, 2005-01, Vol.28 (2), p.163-168

2005

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Response to Torralba and Pérez-Calbo

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.455-456

2009

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Diverse mutations in patients with Menkes disease often lead to exon skipping

American journal of human genetics, 1994-11, Vol.55 (5), p.883-889

1994

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Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

Clinical genetics, 2005-10, Vol.68 (4), p.337-348

2005

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Theoretical Issues in Stuttering

Second edition., 2017

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The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Human molecular genetics, 1997-05, Vol.6 (5), p.695-707

1997

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133 DIAGNOSIS OF BILATERAL FRONTOPARIETAL POLYMICROGYRIA IN A PATIENT WITH DEVELOPMENTAL DELAY AND SEIZURES

Journal of investigative medicine, 2005-01, Vol.53 (1), p.S101-S101

2005

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Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

Annals of internal medicine, 2003-02, Vol.138 (4), p.338

2003

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Payday Lending: Global Growth of the High-Cost Credit Market

Packman, Carl

1, 2014

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Clinical benefits of early treatment with Fabrazyme in Fabry disease

Clinical therapeutics, 2007, Vol.29, p.S29-S29

2007

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Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

Journal of inherited metabolic disease, 1999-06, Vol.22 (5), p.599-607

1999

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Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse

Nature genetics, 1997-07, Vol.16 (3), p.224-225

1997

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Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and -galactosidase A activity

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Psychological aspects of patients with Fabry disease

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

Executive functioning in children and adolescents with phenylketonuria

Chronology of sand ridges and the Late Quaternary evolution of the Etosha Pan, Namibia

Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease

Psychological complications of patients with Gaucher disease

Periventricular heterotopia associated with chromosome 5p anomalies

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Galactosaemia: Early treatment with an elemental formula

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Response to Torralba and Pérez-Calbo

Diverse mutations in patients with Menkes disease often lead to exon skipping

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

Theoretical Issues in Stuttering

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

133 DIAGNOSIS OF BILATERAL FRONTOPARIETAL POLYMICROGYRIA IN A PATIENT WITH DEVELOPMENTAL DELAY AND SEIZURES

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

Payday Lending: Global Growth of the High-Cost Credit Market

Clinical benefits of early treatment with Fabrazyme in Fabry disease

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse

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