000 | 01387cam a2200241 4500 | ||
---|---|---|---|
001 | 9780128126837 | ||
008 | 220107t2021 xxu||||| |||| 00| 0 eng d | ||
020 | _a9780128126837 | ||
020 | _a9780128125359 | ||
041 | _aeng | ||
100 | _aPyeritz, Reed E. | ||
245 | 0 | _aEmery and Rimoin's principles and practice of medical genetics and genomics. | |
250 | _a7th ed. | ||
260 |
_aLondon : _bElsevier/Academic Press, _c2021 |
||
300 | _a1 online resource (xiii, 737 pages):illustrations (chiefly color) | ||
505 | _aDisorders of the body mass -- Genetic lipodystrophies -- Amino acid metabolism -- Disorders of carbohydrate metabolism -- Disorders affecting glycosylation -- Purine and pyrimidine metabolism -- Lipoprotein and lipid metabolism -- Organic acidemias and disorders of fatty acid oxidation -- Vitamin d metabolism or action -- Inherited porphyrias -- Inherited disorders of human copper metabolism -- Iron metabolism and related disorders -- Mucopolysaccharidoses -- Lysosomal storage disorders -- Peroxisomal disorders -- Genetics of mitochondrial respiratory chain disease." | ||
690 | _aMedical genetics. | ||
690 | _aMetabolic disorders | ||
700 | _aKorf, Bruce R. | ||
700 | _aGrody, Wayne W. | ||
856 | _uhttps://go.openathens.net/redirector/nhs?url=https://www.clinicalkey.com/dura/browse/bookChapter/3-s2.0-C20160033478 | ||
999 |
_c58750 _d58750 |