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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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Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

Human mutation, 2006-04, Vol.27 (4), p.343-352

2006

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Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

The New England journal of medicine, 2008-01, Vol.358 (2), p.140-151

2008

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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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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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PiWinneytown: New Alpha1-Antitrypsin Allele in an American Negro Family

Human heredity, 2008-08, Vol.32 (4), p.280-284

2008

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Levetiracetam as Adjunctive Antiepileptic Therapy for Patients with Tuberous Sclerosis Complex: A Retrospective Open-Label Trial

Journal of child neurology, 2006-01, Vol.21 (1), p.53-57

2006

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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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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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Anticoagulant effects on plasma coenzyme Q10 estimated by HPLC with coulometric detection

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

2002

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

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

2002

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Pulmonary Cysts Consistent With Lymphangioleiomyomatosis Are Common in Women With Tuberous Sclerosis

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

2002

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Weanling and adult rats differ in fatty acid and carnitine metabolism during sepsis

Journal of pediatric surgery, 1995-07, Vol.30 (7), p.959-966

1995

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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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PiPclifton: a new α1-antitrypsin allele in an American Negro family

Journal of medical genetics, 1981-02, Vol.18 (1), p.43-45

1981

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1192 FCINCINNATI: A NEW ALPHA1-ANTITRYPSIN VARIANT IN TWO NEGRO FAMILIES

Pediatric research, 1978-04, Vol.12, p.562-562

1978

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Loss of cyclic 3′5′-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle

Biochemical and biophysical research communications, 1970-08, Vol.40 (4), p.982-988

1970

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Alpha1-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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Pi Zpratt : A new alpha1-antitrypsin allele in an American negro family

Human genetics, 1980-10, Vol.56 (1), p.107-110

1980

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Pi Ecincinnati: A new alpha1-antitrypsin allele in three negro families

Human genetics, 1980-06, Vol.54 (3), p.361-364

1980

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Membranoproliferative Glomerulonephritis and α1-Antitrypsin Deficiency in Children

Pediatrics (Evanston), 1983-01, Vol.71 (1), p.88-92

1983

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Low Phosphorylase Activity: A Symptom but not a Diagnosis

Pediatric research, 1970-09, Vol.4 (5), p.452-452

1970

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Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

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

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?

PiWinneytown: New Alpha1-Antitrypsin Allele in an American Negro Family

Levetiracetam as Adjunctive Antiepileptic Therapy for Patients with Tuberous Sclerosis Complex: A Retrospective Open-Label Trial

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

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

Anticoagulant effects on plasma coenzyme Q10 estimated by HPLC with coulometric detection

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

Pulmonary Cysts Consistent With Lymphangioleiomyomatosis Are Common in Women With Tuberous Sclerosis

Weanling and adult rats differ in fatty acid and carnitine metabolism during sepsis

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

PiPclifton: a new α1-antitrypsin allele in an American Negro family

1192 FCINCINNATI: A NEW ALPHA1-ANTITRYPSIN VARIANT IN TWO NEGRO FAMILIES

Loss of cyclic 3′5′-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle

Alpha1-Antitrypsin Phenotype: Transient Cathodal Shift in Serum of Infant Girl with Urinary Cytomegalovirus and Fatty Liver

Pi Zpratt : A new alpha1-antitrypsin allele in an American negro family

Pi Ecincinnati: A new alpha1-antitrypsin allele in three negro families

Membranoproliferative Glomerulonephritis and α1-Antitrypsin Deficiency in Children

Low Phosphorylase Activity: A Symptom but not a Diagnosis

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