Atlas of Inherited Metabolic Diseases 3E
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129

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1

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Published By CRC Press

9781444112252, 9781444149487

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Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-92 ◽

2011 ◽

pp. 597-604

Keyword(s):

Mucopolysaccharidosis Vi

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Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-91 ◽

2011 ◽

pp. 588-596

Keyword(s):

Mucopolysaccharidosis Type ◽

Type Iv ◽

Morquio Syndrome

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Hurler disease/mucopolysaccharidosis type IHa- L-iduronidase deficiency

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-87 ◽

2011 ◽

pp. 558-565

Keyword(s):

Mucopolysaccharidosis Type

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Cystinuria

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-80 ◽

2011 ◽

pp. 525-531

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Disorders of purine metabolism

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-72 ◽

2011 ◽

pp. 481-491

Keyword(s):

Purine Metabolism

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Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-71 ◽

2011 ◽

pp. 469-479

Keyword(s):

Peroxisomal Biogenesis ◽

Neonatal Adrenoleukodystrophy

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Multiple carboxylase deficiency/holocarboxylase synthetase deficiency

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-7 ◽

2011 ◽

pp. 40-46

Keyword(s):

Holocarboxylase Synthetase ◽

Synthetase Deficiency ◽

Multiple Carboxylase Deficiency ◽

Holocarboxylase Synthetase Deficiency

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Glycogenosis type III/amylo-1,6-glucosidase (debrancher) deficiency

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-68 ◽

2011 ◽

pp. 447-455

Keyword(s):

Type Iii ◽

Glycogenosis Type

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Neurodegeneration, ataxia and retinitis pigmentosa (NARP)

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-59 ◽

2011 ◽

pp. 388-392

Keyword(s):

Retinitis Pigmentosa

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Deficiency of the pyruvate dehydrogenase complex

Atlas of Inherited Metabolic Diseases 3E ◽

10.1201/b15310-55 ◽

2011 ◽

pp. 359-367

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Dehydrogenase Complex

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