Titlebook: Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria; R. A. Harkness,R. J. Pollitt,G. M. Addison Book 1990 Society for the S

令人悲伤

https://doi.org/10.1007/978-3-642-32109-2bstantial arylsulphatase A deficiency can also occur in healthy individuals, a phenotype termed pseudodeficiency. Two concurrent mutations have been identified in this low arylsulphatase A activity allele. This permitted the development of a rapid assay which allows the detection of the pseudodefici

原来

Sören Jaspers,Christian Benderothetic diseases have been satisfactorily corrected and seven partially corrected, but for five there has been inadequate delivery of component to genetically defective tissues such as heart, cartilage and brain. The principles can be applied to some 40 other genetic diseases for which no suitable alte

毗邻

conjunctiva

The Long-term Outcome of Patients with Glycogen Storage Diseases,Almost half of the patients with glycogen storage disease type Ia had retarded growth and most had hyperlipidaemia. One-third of the patients had adenomas, although none of these showed malignant transformations. With increasing age the growth, liver size and hyperlipidaemia of patients with glycoge

Unsaturated-Fat

Diagnosis of Glycogen Storage Disease,hat affect primarily the liver and those that affect principally the muscle. In this report each glycogenosis has been clinically and biochemically documented and possibilities for an accurate and prompt diagnosis of the various types have been summarized. Most of the patients suffering from type II

遭受

Molecular Genetics of Phosphorylase Kinase: cDNA Cloning, Chromosomal Mapping and Isoform Structureis so because phosphorylase kinase consists of four different subunits and has multiple tissue-specific isoforms. To elucidate the molecular basis of phosphorylase kinase deficiencies, the cDNAs encoding the subunits . and . were cloned and sequenced. Each subunit was shown to be encoded by a single

奴才

深渊

prosthesis

Inherited Disorders of Carbohydrate Metabolism in Children Studied by 13C-Labelled Precursors, NMR termined by a novel approach — mass isotopomer analysis of plasma .C glucose. Changes in the isotopomer distribution of plasma .C glucose were found only in glycogen storage disease type III patients and control subjects. Glucose carbon recyling parameters were also derived from .C NMR spectra of pl

外形