Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
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55

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4

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Published By Springer Berlin Heidelberg

9783642403361, 9783642403378

Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Hyperoxalurias

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_28 ◽

2014 ◽

pp. 465-474

Author(s):

Bernd Hoppe ◽

Nenad Blau

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Disorders of Carbohydrate Metabolism and Glucose Transport

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_18 ◽

2014 ◽

pp. 265-301 ◽

Author(s):

René Santer ◽

Joerg Klepper ◽

G. Peter A. Smit

Keyword(s):

Carbohydrate Metabolism ◽

Glucose Transport

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Purine and Pyrimidine Disorders

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_41 ◽

2014 ◽

pp. 641-660 ◽

Author(s):

Jörgen Bierau ◽

Ivan Šebesta

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Proton NMR Spectroscopy of Body Fluids

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_53 ◽

2014 ◽

pp. 795-801

Author(s):

Udo Engelke ◽

Angelina Goudswaard ◽

Ron Wevers

Keyword(s):

Nmr Spectroscopy ◽

Body Fluids ◽

Proton Nmr Spectroscopy

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Peroxisomal Disorders

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_24 ◽

2014 ◽

pp. 375-397 ◽

Author(s):

Bwee Tien Poll-The ◽

Ronald J. A. Wanders

Keyword(s):

Peroxisomal Disorders

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The Mucopolysaccharidoses

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_27 ◽

2014 ◽

pp. 449-464

Author(s):

Giancarlo Parenti

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Disorders of the Krebs Cycle

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_20 ◽

2014 ◽

pp. 313-322 ◽

Author(s):

Eva Morava ◽

Rosalba Carrozzo

Keyword(s):

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Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_25 ◽

2014 ◽

pp. 399-435

Author(s):

Carla Hollak ◽

Matthias Kettwig ◽

Lars Schlotawa ◽

Robert Steinfeld

Keyword(s):

Lysosomal Storage Disorders ◽

Neuronal Ceroid Lipofuscinoses ◽

Lysosomal Storage ◽

Storage Disorders

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Cystinosis

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_29 ◽

2014 ◽

pp. 475-482

Author(s):

Elena Levtchenko ◽

Francesco Emma

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Acylcarnitines

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_51 ◽

2014 ◽

pp. 775-784

Author(s):

Dietrich Matern

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