Inborn Metabolic Diseases: Diagnosis and Treatment by J. M. Saudubray, H. Ogier de Baulny, C. Charpentier (auth.),

By J. M. Saudubray, H. Ogier de Baulny, C. Charpentier (auth.), Dr. John Fernandes, Professor Jean-Marie Saudubray, Professor Georges Van den Berghe (eds.)

Show description

Read Online or Download Inborn Metabolic Diseases: Diagnosis and Treatment PDF

Similar endocrinology & metabolism books

Handbook of Drug Metabolism

This well timed, multiplied new version is the definitive instruction manual for skilled drug metabolism and pharmaceutical scientists and people new to the sector. Written via across the world well known authors, it presents built-in, finished assurance of primary features of drug metabolism and the sensible purposes that support advisor researchers via key demanding situations in smooth drug discovery and improvement.

Glucose Intolerance - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

This can be a 3-in-1 reference publication. It provides a whole clinical dictionary masking countless numbers of phrases and expressions when it comes to glucose intolerance. It additionally provides huge lists of bibliographic citations. eventually, it offers details to clients on how you can replace their wisdom utilizing a variety of net assets.

Handbook of obesity

Presents an updated evaluation of weight problems, its study and medical parts. The textual content info issues starting from historic views, definitions and dimension to the aetiology, pathophysiology, prevention and remedy of weight problems. It covers the impact of weight problems on quite a few stipulations, resembling diabetes, gout, arthritis, and center, pulmonary and gallbladder ailment, in addition to being pregnant.

Application of Peptide-Based Prodrug Chemistry in Drug Development

Macromolecular (specifically peptide-based) medicines may very likely be powerful drugs. despite the fact that they've got a comparatively brief period of motion and variable healing index. An instance of one of these peptide is Glucagon-like Peptide I which can in all likelihood be used as a progressive drug for diabetes.

Extra resources for Inborn Metabolic Diseases: Diagnosis and Treatment

Sample text

3-Hydroxyacyl-CoAdehydrogenase deficiency, L-2-hydroxyglutaric aciduria, 3-methylglutaconic aciduria, MMA, and PA disturb organic-acid excretion significantly, though sometimes only slightly and intermittently. In these disorders, the acylcarnitine profile determined (by a tandem MS-MS technique) from blood spots collected on dry filter paper can be very helpful in identifying characteristic acylcarnitine compounds. GA type I due to glutaryl-CoA-dehydrogenase deficiency can also present with permanent unsteady gait due to choreoathetosis and with dystonia developing abruptly after an acute episode resembling encephalitis.

In the following pages, neurological symptoms are presented according to two different viewpoints. 11]. The second is an analytical view giving an extensive alphabetical list of disorders for each neurologic symptom (remainder of the section). Of course, these two views are complementary and involve inevitable redundancies. It is always recommended that one look at both. 11 present a general approach to inborn errors of metabolism involving neurologic and/or mental deterioration. Diseases are classified according to their age at onset, the presence or absence of associated extraneurologic signs, and fue neurologic presentation itself; the last is based largely on the clinical classification of Lyon and Adams [20].

The diagnosis relies on the finding of a low glucose level in the CSF while the simultaneous blood glucose level is normal. Late Infancy to Early Childhood (1-5 Years) In this period, diagnosis becomes easier. 10). Category 1: with Visceral, Craniovertebral, Ocular, or Other Somatic Abnormalities When these symptoms are present and associated with a slowing or regression of development, diagnosis is usually easy. Mucopolysaccharidosis types I and II, mucolipidosis type III, oligosaccharidosis, Austin disease, Niemann-Pick disease type C, Gaucher disease type III, and lactosyl ceramidosis are usually easy to recognize.

Download PDF sample

Rated 4.65 of 5 – based on 19 votes