دانلود کتاب Inherited Disorders of Vitamins and Cofactors: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984

فهرست مطالب :

Front Matter....Pages i-1
Vitamins: An Evolutionary Perspective....Pages 2-7
Normal Vitamin Requirements in Neonates and Infants....Pages 8-12
Intestinal Transport of Vitamins....Pages 13-16
Evaluation of Cofactor Responsiveness....Pages 17-19
Biosynthesis of Tetrahydrobiopterin in Man....Pages 28-33
Differential Diagnosis of Tetrahydrobiopterin Deficiency....Pages 34-38
Clinical Role of Pteridine Therapy in Tetrahydrobiopterin Deficiency....Pages 39-45
Hyperphenylalaninaemia Caused by Defects in Biopterin Metabolism....Pages 20-27
Enzyme Studies in Biotin-responsive Disorders....Pages 46-52
Biotinidase Deficiency: A Novel Vitamin Recycling Defect....Pages 53-58
Biotinidase Deficiency: Factors Responsible for the Increased Biotin Requirement....Pages 59-64
Riboflavin-responsive Defects of β-Oxidation....Pages 65-69
Thiamine-responsive Inborn Errors of Metabolism....Pages 70-75
Recent Advances in the Mechanism of Pyridoxine-responsive Disorders....Pages 76-83
Vitamin E and Muscle Diseases....Pages 84-87
The Role of Vitamin E in the Treatment of the Neurological Features of Abetalipoproteinaemia and Other Disorders of Fat Absorption....Pages 88-92
Preface to Short Communications....Pages 93-93
Free communications....Pages 93-94
Biopterin, Neopterin and Tyrosine Responses to Combined Oral Phenylalanine and Tetrahydrobiopterin Loading Tests in Two Normal Children and in a Girl with Partial Biopterin Deficiency....Pages 95-96
Phenylketonuria due to Dihydropteridine Reductase Deficiency: Presentation of Two Cases....Pages 97-98
Neonatal Screening for Dihydropteridine Reductase Deficiency....Pages 99-100
A Bioassay for Determining Biotinidase Activity and for Discriminating Biocytin from Biotin using Holocarboxylase Synthetase-deficient Cultured Fibroblasts....Pages 101-102
Biotin-responsive 3-Methylcrotonylglycinuria with Biotinidase Deficiency....Pages 103-104
Organic Aciduria in Late-onset Biotin-responsive Multiple Carboxylase Deficiency....Pages 105-106
Successful Nicotinamide Treatment in an Autosomal Dominant Behavioral and Psychiatric Disorder....Pages 107-108
Folic Acid Responsive Rages, Seizures and Homocystinuria....Pages 109-110
The Effect of Phytol upon Skeletal Muscle Damage in Vitamin E-Deficient Animals....Pages 111-112
Dihydropyrimidine Dehydrogenase Deficiency Leading to Thymine-uraciluria. An Inborn Error of Pyrimidine Metabolism....Pages 113-114
Dihydropyrimidine Dehydrogenase Deficiency — A Further Case....Pages 115-116
Combined Deficiency of Xanthine Oxidase and Sulphite Oxidase: Diagnosis of a New Case Followed by an Antenatal Diagnosis....Pages 117-118
An Abnormal Amino Acid Pattern in Adenosine Deaminase Deficiency....Pages 119-119
Amino Acidaemias and Brain Maturation: Interference with Sulphate Activation and Myelin Metabolism....Pages 121-122
Juvenile Non-ketotic Hyperglycinaemia in Three Siblings....Pages 123-124
Amino Acid Loading Tests in a Patient with Non-ketotic Hyperglycinaemia....Pages 125-126
Plasma Selenium Levels in Treated Phenylketonuric Patients....Pages 127-128
Plasma Lipid Concentrations in 42 Treated Phenylketonuric Children....Pages 129-129
Speech and Language Disorders in Histidinaemia and other Amino Acid Disturbances....Pages 130-130
Early Diagnosis and Dietetic Management in Newborn with Maple Syrup Urine Disease. Birth to Six Weeks....Pages 131-132
α-Aminoadipic and α-Ketoadipic Aciduria: Detection of a New Case by a Screening Program using Two-dimensional Thin Layer Chromatography of Amino Acids....Pages 133-134
The Diagnosis and Biochemical Investigation of a Patient with a Short Chain Fatty Acid Oxidation Defect....Pages 135-136
Multiple Acyl-CoA Dehydrogenase Deficiency: A Neonatal Onset Case Responsive to Treatment....Pages 137-138
Metabolic Effects of Carnitine Medication in a Patient with Multiple Acyl-CoA Dehydrogenation Deficiency....Pages 139-140
L-Carnitine and Glycine Therapy in Isovaleric Acidaemia....Pages 141-142
The Identification of Acylcarnitines by Desorption Chemical Ionization Mass Spectrometry....Pages 143-144
The Prenatal Diagnosis of Glutaric Aciduria Type II, using Quantitative GC-MS....Pages 145-146
3-Methyladipate Excretion in Animals Fed a Phytol Supplement with Reference to Refsum’s Disease....Pages 147-148
Difficulties in Assessing Biochemical Properties of Abnormal Muscle Mitochondria....Pages 149-150
Peroxisomal Matrix Enzymes in Zellweger Syndrome: Activity and Subcellular Localization in Liver....Pages 151-152
Prenatal Diagnosis of the Cerebro-hepato-renal (Zellweger) Syndrome by Detection of an Impaired Plasmalogen Biosynthesis....Pages 153-154