Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria
Editat de R. Angus Harkness, R.J. Pollitt, G.M. Addisonen Limba Engleză Paperback – 31 ian 1991
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Specificații
ISBN-13: 9780792389477
ISBN-10: 0792389476
Pagini: 288
Ilustrații: 288 p. 6 illus.
Dimensiuni: 155 x 235 x 15 mm
Greutate: 0.41 kg
Ediția:Journal of Inherited Metabolic Disease - Review Issue, 13:4, 1990, 1990
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
ISBN-10: 0792389476
Pagini: 288
Ilustrații: 288 p. 6 illus.
Dimensiuni: 155 x 235 x 15 mm
Greutate: 0.41 kg
Ediția:Journal of Inherited Metabolic Disease - Review Issue, 13:4, 1990, 1990
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
Public țintă
ResearchCuprins
Preface.- Mechanisms of Blood Glucose Homeostasis.- The Long-term Outcome of Patients with Glycogen Storage Diseases.- Diagnosis of Glycogen Storage Disease.- Molecular Genetics of Phosphorylase Kinase: cDNA Cloning, Chromosomal Mapping and Isoform Structure.- Phosphorylase b Kinase Deficiency in Man: a Review.- Muscle Glycogenosis.- Inherited Disorders of Carbohydrate Metabolism in Children Studied by 13C-Labelled Precursors, NMR and GC-MS.- Galactose Disorders: an Overview.- Regulation of Galactose Metabolism: Implications for Therapy.- The Mechanisms of Cataract Formation.- Cataract and Metabolic Disease.- Plasma Polyol Levels in Patients with Cataract.- Disorders of Glycoprotein Degradation.- ?- and ?- Mannosidoses.- Schindler Disease: an Inherited Neuroaxonal Dystrophy due to ?-N-Acetylgalactosaminidase Deficiency.- Advances in the Molecular Genetics of Metachromatic Leukodystrophy.- Displacement Bone Marrow Transplantation for Some Inborn Errors.- Clinical Application of Somatic Gene Therapy in Inborn Errors of Metabolism.- Transport of Amino Acids by the Human Placenta: Predicted Effects thereon of Maternal Hyperphenylalaninaemia.- Transport of Amino Acids across the Blood-Brain Barrier: Implications for Treatment of Maternal Phenylketonuria.- The Effects of High Phenylalanine Concentration on Chick Embryonic Development.- A Preliminary Report of the Collaborative Study of Maternal Phenylketonuria in the United States and Canada.- Fetal Damage due to Maternal Phenylketonuria: Effects of Dietary Treatment and Maternal Phenylalanine Concentrations around the Time of Conception.- Maternal Phenylketonuria — the Irish Experience.- Cognitive Development in Offspring of Untreated and Preconceptionally Treated Maternal Phenylketonuria.