JIMD Reports - Case and Research Reports, 2012/2

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Publisher : Springer Science & Business Media
ISBN 13 : 364228096X
Total Pages : 130 pages
Book Rating : 4.6/5 (422 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/2 by : SSIEM

Download or read book JIMD Reports - Case and Research Reports, 2012/2 written by SSIEM and published by Springer Science & Business Media. This book was released on 2012-02-13 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2012/1

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3642257518
Total Pages : 138 pages
Book Rating : 4.6/5 (422 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/1 by : SSIEM

Download or read book JIMD Reports - Case and Research Reports, 2012/1 written by SSIEM and published by Springer Science & Business Media. This book was released on 2012-02-01 with total page 138 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2012/3

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Publisher : Springer Science & Business Media
ISBN 13 : 364228129X
Total Pages : 129 pages
Book Rating : 4.6/5 (422 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/3 by : SSIEM

Download or read book JIMD Reports - Case and Research Reports, 2012/3 written by SSIEM and published by Springer Science & Business Media. This book was released on 2012-05-10 with total page 129 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2012/6

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3642355188
Total Pages : 143 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/6 by : Johannes Zschocke

Download or read book JIMD Reports - Case and Research Reports, 2012/6 written by Johannes Zschocke and published by Springer Science & Business Media. This book was released on 2012-12-18 with total page 143 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2012/5

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3642334334
Total Pages : 155 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/5 by : Johannes Zschocke

Download or read book JIMD Reports - Case and Research Reports, 2012/5 written by Johannes Zschocke and published by Springer Science & Business Media. This book was released on 2012-10-01 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2012/4

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Publisher : Springer Science & Business Media
ISBN 13 : 364232441X
Total Pages : 133 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/4 by : Johannes Zschocke

Download or read book JIMD Reports - Case and Research Reports, 2012/4 written by Johannes Zschocke and published by Springer Science & Business Media. This book was released on 2012-09-07 with total page 133 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, Volume 13

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Publisher : Springer
ISBN 13 : 3642541496
Total Pages : 164 pages
Book Rating : 4.6/5 (425 download)

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Book Synopsis JIMD Reports - Case and Research Reports, Volume 13 by : Johannes Zschocke

Download or read book JIMD Reports - Case and Research Reports, Volume 13 written by Johannes Zschocke and published by Springer. This book was released on 2014-07-24 with total page 164 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports, Volume 33

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Publisher : Springer
ISBN 13 : 3662550121
Total Pages : 109 pages
Book Rating : 4.6/5 (625 download)

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Book Synopsis JIMD Reports, Volume 33 by : Eva Morava

Download or read book JIMD Reports, Volume 33 written by Eva Morava and published by Springer. This book was released on 2017-05-02 with total page 109 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2012/2

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Author :
Publisher : Springer
ISBN 13 : 9783642280979
Total Pages : 130 pages
Book Rating : 4.2/5 (89 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/2 by : Verena Peters

Download or read book JIMD Reports - Case and Research Reports, 2012/2 written by Verena Peters and published by Springer. This book was released on 2012-02-18 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports, Volume 42

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Publisher : Springer
ISBN 13 : 3662583658
Total Pages : 116 pages
Book Rating : 4.6/5 (625 download)

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Book Synopsis JIMD Reports, Volume 42 by : Eva Morava

Download or read book JIMD Reports, Volume 42 written by Eva Morava and published by Springer. This book was released on 2018-11-09 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

JIMD Reports - Case and Research Reports, 2012/6

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Author :
Publisher : Springer
ISBN 13 : 9783642355172
Total Pages : 143 pages
Book Rating : 4.3/5 (551 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/6 by : Johannes Zschocke

Download or read book JIMD Reports - Case and Research Reports, 2012/6 written by Johannes Zschocke and published by Springer. This book was released on 2012-12-18 with total page 143 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

The Metabolic & Molecular Bases of Inherited Disease

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Author :
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)

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Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

JIMD Reports - Case and Research Reports, 2012/5

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Author :
Publisher : Springer
ISBN 13 : 9783642334344
Total Pages : 152 pages
Book Rating : 4.3/5 (343 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/5 by : Johannes Zschocke

Download or read book JIMD Reports - Case and Research Reports, 2012/5 written by Johannes Zschocke and published by Springer. This book was released on 2012-10-02 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2011/1

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3642177077
Total Pages : 133 pages
Book Rating : 4.6/5 (421 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2011/1 by : SSIEM

Download or read book JIMD Reports - Case and Research Reports, 2011/1 written by SSIEM and published by Springer Science & Business Media. This book was released on 2011-08-03 with total page 133 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports - Case and Research Reports, 2012/1

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Author :
Publisher : Springer
ISBN 13 : 9783642257537
Total Pages : 137 pages
Book Rating : 4.2/5 (575 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2012/1 by : SSIEM

Download or read book JIMD Reports - Case and Research Reports, 2012/1 written by SSIEM and published by Springer. This book was released on 2012-02-05 with total page 137 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Inborn Metabolic Diseases

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Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Inborn Metabolic Diseases by : K. Tada

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.