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