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Effectiveness of Enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher registry

The American journal of medicine, 2002-08, Vol.113 (2), p.112-119

2002

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Individualization of long-term enzyme replacement therapy for Gaucher disease

Genetics in medicine, 2005-02, Vol.7 (2), p.105-110

2005

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Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Seminars in hematology, 2004-10, Vol.41 (4 Suppl 5), p.15-22

2004

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Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

The Journal of pediatrics, 2004-01, Vol.144 (1), p.112-120

2004

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The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

Archives of internal medicine (1960), 2000-10, Vol.160 (18), p.2835

2000

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Pyruvate carboxylase deficiency—insights from liver transplantation

Molecular genetics and metabolism, 2002-09, Vol.77 (1), p.143-149

2002

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Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families

Pediatric research, 1998-05, Vol.43 (5), p.579-584

1998

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Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

The New England journal of medicine, 1986-06, Vol.314 (25), p.1610-1614

1986

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Gaucher disease: recommendations on diagnosis, evaluation, and monitoring

Archives of internal medicine (1960), 1998-09, Vol.158 (16), p.1754

1998

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Newborn Screening Fact Sheets

Pediatrics (Evanston), 1996-09, Vol.98 (3), p.473-501

1996

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Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase

The Journal of pediatrics, 1996-07, Vol.129 (1), p.149-153

1996

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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

Annals of neurology, 1991-11, Vol.30 (5), p.709-716

1991

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Erratum to “Pyruvate carboxylase deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]

Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.278-278

2006

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Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance

Radiology, 1995-06, Vol.195 (3), p.733-738

1995

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Letter to the Editor: White Cell Ornithine Transcarbamylase Activity Cannot Detect the Liver Enzyme Deficiency

Pediatric research, 1978-08, Vol.12 (8), p.873-873

1978

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Health Supervision for Children With Down Syndrome

Pediatrics (Evanston), 1994-05, Vol.93 (5), p.855-859

Committee on Genetics

1994

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Maternal Phenylketonuria

Pediatrics (Evanston), 2001-02, Vol.107 (2), p.427-428

Committee on Genetics

2001

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PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Prenatal diagnosis, 1996-02, Vol.16 (2), p.117-124

1996

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Biochemical diagnosis of genetic diseases

Pediatric annals, 1993-05, Vol.22 (5), p.282-297

Wappner, R S

1993

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Peritoneal dialysis in the first 60 days of life

Journal of pediatric surgery, 1990, Vol.25 (1), p.110-116

1990

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Sequence of the EIα subunit of branched-chain α-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease

American journal of human genetics, 1990, Vol.46 (4), p.843-846

1990

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Disorders of Leucine Metabolism

Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases, p.59-79

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A residential camp for children with phenylketonuria

Topics in clinical nutrition, 1987-07, Vol.2 (3), p.31-34

1987

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Lactation and Phenylketonuria

American journal of perinatology, 1985-04, Vol.2 (2), p.138-141

1985

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Effectiveness of Enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher registry

Individualization of long-term enzyme replacement therapy for Gaucher disease

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

Pyruvate carboxylase deficiency—insights from liver transplantation

Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring

Newborn Screening Fact Sheets

Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

Erratum to “Pyruvate carboxylase deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]

Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance

Letter to the Editor: White Cell Ornithine Transcarbamylase Activity Cannot Detect the Liver Enzyme Deficiency

Health Supervision for Children With Down Syndrome

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients: Advances in Gaucher Diease: Therapeutic Goals and Evaluation and Monitoring Guidelines

Maternal Phenylketonuria

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Biochemical diagnosis of genetic diseases

Peritoneal dialysis in the first 60 days of life

Sequence of the EIα subunit of branched-chain α-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease

Disorders of Leucine Metabolism

A residential camp for children with phenylketonuria

Lactation and Phenylketonuria

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