Johannes Zschocke

Eva Morava

Verena Peters

Matthias Baumgartner

Marc Patterson

Shamima Rahman

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 23

JIMD Reports, Volume 40

JIMD Reports, Volume 29

Christian Patrick Schaaf

Lorraine Potocki

Core genetics text for medical students in their 1st or 2nd year. Unique in its organ system approach, this textbook teaches concepts in medical genetics by exploring disease entities within the context of the organ system in which they most frequently present. TOP 30 genetic conditions covered in a tear-out apple flap or C2. Section on information from a patient and familys point of view helps teach students about key obstacles for patients suffering from severe genetic conditions. Adapted from a successful German text published by Springer.

From Molecules to Medicine

Human Genetics

JIMD Reports, Volume 32

K. Michael Gibson

Garry Brown

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 15

JIMD Reports, Volume 17

K Michael Gibson

JIMD Reports - Volume 11

JIMD Reports, Volume 42

Georg F. Hoffmann

William L. Nyhan

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

Johannes Zschocke

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