Table
of Contents
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PART A |
INTRODUCTION TO
INBORN ERRORS OF METABOLISM |
1 |
A1 |
Disorders
of Intermediary Metabolism Johannes Zschocke |
3 |
A2 |
Disorders
of the Biosynthesis and Breakdown of Complex Molecules Johannes Zschocke |
7 |
A3 |
Neurotransmitter
Defects and Related Disorders Georg F. Hoffmann |
11 |
PART B |
APPROACH TO THE
PATIENT WITH METABOLIC DISEASE |
13 |
B1 |
When to
Suspect Metabolic Disease William L. Nyhan |
15 |
B2 |
Metabolic
Emergencies William L. Nyhan |
25 |
B3 |
Patient
Care and Treatment William L. Nyhan and Georg F. Hoffmann |
61 |
B4 |
Anesthesia
and Metabolic Disease William L. Nyhan |
63 |
PART C |
ORGAN SYSTEMS IN
METABOLIC DISEASE |
67 |
C1 |
Approach to
the Patient with Cardiovascular Disease Joachim Kreuder and Stephen G. Kahler |
69 |
C2 |
Liver
Disease Georg F. Hoffmann and Guido Engelmann |
89 |
C3 |
Gastrointestinal
and General Abdominal Symptoms Stephen G. Kahler |
109 |
C4 |
Kidney
Disease and Electrolyte Disturbances William L. Nyhan |
117 |
C5 |
Neurological
Disease Angels Garcia-Cazorla, Nicole I. Wolf, and Georg F. Hoffmann |
127 |
C6 |
Metabolic Myopathies Stephen G. Kahler |
161 |
C7 |
Psychiatric
Disease Ertan Mayatepek |
177 |
C8 |
Eye
Disorders Alberto Burlina and Alessandro P. Burlina |
181 |
C9 |
Skin and
Hair Disorders Carlo Dionisi-Vici,
May El Hachem,
and Enrico
Bertini |
197 |
C10 |
Physical
Abnormalities in Metabolic Diseases Ute Moog, Johannes Zschocke and Stephanie Grünewald |
219 |
C11 |
Hematological
Disorders Ellen Crushell
and Joe T.R Clarke |
233 |
C12 |
Immunological
Problems Ertan Mayatepek |
243 |
PART D |
INVESTIGATIONS FOR
METABOLIC DISEASES |
249 |
D1 |
Newborn
Screening for Inherited Metabolic Disease Piero Rinaldo
and Dietrich Matern |
251 |
D2 |
Biochemical
Studies Kenneth M. Gibson and Cornelis Jakobs |
263 |
D3 |
Enzymes,
Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of
Inherited Metabolic Diseases Ronald
J.A. Wanders, Ben J.H.M. Poorthuis, and
Richard J.T. Rodenburg |
283 |
D4 |
DNA Studies Johannes Zschocke |
305 |
D5 |
Pathology -
Biopsy Hans H. Goebel |
311 |
D6 |
Suspected
Mitochondrial Disorder Nicole I. Wolf |
325 |
D7 |
Postmortem
Investigations Piero Rinaldo |
335 |
D8 |
Function
Tests Johannes Zschocke |
339 |
D9 |
Family
Issues, Carrier Tests, and Prenatal Diagnosis Johannes Zschocke |
357 |
PART E |
APPENDIX |
361 |
E1 |
Differential
Diagnosis of Clinical and Biochemical Phenotypes |
363 |
E2 |
Reference
Books |
375 |
E3 |
Internet
Resources |
377 |
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Index |
379 |
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