Studies in Inherited Metabolic Disease
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Published By Springer Netherlands

9789401070591, 9789400912595

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The Paediatric Lipid Clinic in Birmingham

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_9 ◽

1988 ◽

pp. 91-93

Author(s):

M. Tarlow ◽

A. Green ◽

D. Worthington ◽

E. Buchanan

Keyword(s):

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Peptiduria Presumably Caused by Aminopeptidase-P Deficiency. A New Inborn Error of Metabolism

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_42 ◽

1988 ◽

pp. 240-242

Author(s):

N. Blau ◽

A. Niederwieser ◽

D. H. Shmerling

Keyword(s):

Inborn Error ◽

Inborn Error Of Metabolism ◽

P Deficiency ◽

Aminopeptidase P

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The Use of Recombinant DNA Techniques for the Diagnosis of Familial Hypercholesterolaemia

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_4 ◽

1988 ◽

pp. 33-44

Author(s):

S. Humphries ◽

R. Taylor ◽

M. Jeenah ◽

M. Seed

Keyword(s):

Familial Hypercholesterolaemia ◽

Recombinant Dna ◽

Recombinant Dna Techniques

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Diversity in Residual Alanine Glyoxylate Aminotransferase Activity in Hyperoxaluria Type I: Correlation with Pyridoxine Responsiveness

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_33 ◽

1988 ◽

pp. 208-211

Author(s):

R. J. A. Wanders ◽

C. W. T. van Roermund ◽

S. Jurriaans ◽

R. B. H. Schutgens ◽

J. M. Tager ◽

...

Keyword(s):

Type I ◽

Aminotransferase Activity ◽

Hyperoxaluria Type I ◽

Glyoxylate Aminotransferase ◽

Hyperoxaluria Type

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Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_29 ◽

1988 ◽

pp. 193-197

Author(s):

A. Federico ◽

L. Manneschi ◽

M. Meloni ◽

C. Alessandrini ◽

A. M. Bardelli ◽

...

Keyword(s):

Optic Atrophy ◽

Biochemical Study ◽

Muscle Mitochondria ◽

Hereditary Optic Atrophy

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Cytochrome c Oxidase Deficiency in Three Patients with Leigh’s Disease

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_28 ◽

1988 ◽

pp. 189-192

Author(s):

M. Di Rocco ◽

E. Veneselli ◽

M. O. Ciccone ◽

A. Taccone ◽

M. Stroppiano ◽

...

Keyword(s):

Cytochrome C ◽

Cytochrome C Oxidase ◽

Oxidase Deficiency ◽

Leigh's Disease ◽

Cytochrome C Oxidase Deficiency

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Infanto-Juvenile Encephaloneuropathy and Pigmentary Retinopathy in a Girl Associated with Congenital Adrenal Insufficiency and Altered Plasma Medium-Chain Fatty Acid Levels

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_25 ◽

1988 ◽

pp. 178-182

Author(s):

A. Federico ◽

G. Baracchini ◽

M. T. Dotti ◽

L. Ibba ◽

A. Malandrini ◽

...

Keyword(s):

Adrenal Insufficiency ◽

Chain Fatty Acid ◽

Medium Chain Fatty Acid ◽

Plasma Medium ◽

Pigmentary Retinopathy ◽

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Peroxisomes and Peroxisomal Functions in Hyperpipecolic Acidaemia

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_21 ◽

1988 ◽

pp. 161-164

Author(s):

R. J. A. Wanders ◽

C. W. T. van Roermund ◽

M. J. A. van Wijland ◽

R. B. H. Schutgens ◽

J. M. Tager ◽

...

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Clinical Consequences of Hyperlipidaemia

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_2 ◽

1988 ◽

pp. 18-28

Author(s):

G. R. Thompson

Keyword(s):

Clinical Consequences

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Histochemical Abnormalities in Liver and Jejunal Biopsies from a Case of Cholesterol Ester Storage Disease

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1259-5_14 ◽

1988 ◽

pp. 139-142

Author(s):

A. Lageron ◽

J. Polonovski

Keyword(s):

Cholesterol Ester ◽

Storage Disease

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