Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism
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Published By Springer Berlin Heidelberg

9783642849640, 9783642849626

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Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_24 ◽

1993 ◽

pp. 176-182

Author(s):

R. A. De Abreu

Keyword(s):

Genetic Basis ◽

Dehydrogenase Deficiency ◽

Dihydropyrimidine Dehydrogenase ◽

Dihydropyrimidine Dehydrogenase Deficiency

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The Clinical Aspects of Inherited Defects in Pyrimidine Degradation

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_23 ◽

1993 ◽

pp. 168-175

Author(s):

M. Tuchman

Keyword(s):

Clinical Aspects ◽

Pyrimidine Degradation

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The Genetic and Metabolic Basis of ADA Deficiency

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_15 ◽

1993 ◽

pp. 104-111

Author(s):

M. S. Hershfield ◽

F. X. Arredondo-vega ◽

I. Santisteban ◽

S. Chaffee

Keyword(s):

Metabolic Basis

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The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_14 ◽

1993 ◽

pp. 92-103

Author(s):

W. Gutensohn

Keyword(s):

Biochemical Basis

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The Clinical Aspects of Hyperuricemia and Gout

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_9 ◽

1993 ◽

pp. 63-68

Author(s):

U. Gresser

Keyword(s):

Clinical Aspects

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Prenatal Diagnosis of Lesch-Nyhan Syndrome

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_4 ◽

1993 ◽

pp. 27-32

Author(s):

F. A. Mateos ◽

J. G. Puig

Keyword(s):

Prenatal Diagnosis

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The Genetic Basis of ASase Deficiency

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_21 ◽

1993 ◽

pp. 156-162

Author(s):

R. L. Stone ◽

J. Aimi ◽

B. A. Barshop ◽

J. Jaeken ◽

G. Van den Berghe ◽

...

Keyword(s):

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The Biochemical Aspects of ASase Deficiency

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_20 ◽

1993 ◽

pp. 144-155

Author(s):

G. Van den Berghe ◽

F. Van den Bergh ◽

M. F. Vincent ◽

J. Jaeken

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Introductory Remarks

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_12 ◽

1993 ◽

pp. 83-83

Author(s):

B. S. Mitchell

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Introductory Remarks

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ◽

10.1007/978-3-642-84962-6_1 ◽

1993 ◽

pp. 3-4

Author(s):

R. W. E. Watts

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