Kyriakie Sarafoglou

I'm in love. Great graphics, nice pathway diagrams and comprehensive coverage of disease. Not really a book for making treatment decisions, but great for diagnosing and understanding IEMs.
I was hesitant to buy it because I don't need the endocrinology and I worried IEMs would be included as an aside, but they in fact predominant, the chapter authors are a who's-who of metabolic disease and the chapters include the diseases that you (I) wish most metabolic textbooks would: comprehensive review of CDGs, neurotransmitter deficiencies, purine and pyrmidine metabolism, B12 and folate metabolism, disorders of mineral metabolism and metabolic bone diseases… (más)