Back

Sub Total £0.00 0 Items

(8244028)

Early Years View All

Browse Early Years Primary Secondary Further Education Academic VLeBooks

Top Categories

Popular Titles Book Bundles Coming Soon New & Noteworthy Accelerated Reader TikTok Made Me Read It

Non-Fiction Books

Biography & Memoirs History Music Sport Wildlife View More...

Publisher

Crown House Dorling Kindersley (DK)GMC Distribution Macmillan Wiley View More...

Fiction Books

Animal stories Classic crime Enviroment stories Fantasy Graphic Novels View More...

Author

David Almond Kwame Alexander Malorie Blackman Sarah Crossan William Shakespeare View More...

Children's Books

Bedtime Stories Big Books Board Books Picture Books Soft Toys & Games View More...

eBooks

Academic Collections New eBooks Primary Box Sets Promotions Secondary Box sets

Popular Topics

Black Lives, Black History Diversity Matters Fantastic Females LGBTQ+Mental Health Awareness Looking After Our Planet

Not To Be Missed

Book Reviews Blog English Mastery Official Book Awards School Book Awards Yoto Carnegies

Other

Dictionaries DVD’s Exam Boards Scotland Resources SEND Timeline of Events

Nursery Essentials

100 Essential Picture Books Fairytales & Fables Nursery Rhymes & Songs Sound Books Story Board Books Touch and Feel

Topics

Animal Stories Dinosaurs Festivals & Celebrations Funny Stories People Who Help Us View More...

First Learning

ABC and First Words Colours Numbers & Counting Rhyming & Wordplay Seasons & Time View More...

Conversation Starters

Black Lives, Black History Books to Inspire Reading Diversity Matters Looking after our Planet Refugees & Immigration Starting School

Favourite Characters

Bluey Elmer Paddington Peppa Pig The Gruffalo View More...

Personal Development

All Kinds of Families Celebrating Grandparents Fantastic Females First Experiences Mental Health Positively Me!

Favourite Series

Baby Touch & Feel Campbell Busy Books First Questions & Answers Ladybird First Favourite Tales That's Not My…View More...

Classroom Essentials

Big Books Numicon Pie Corbett Collections Reading Schemes Teacher Resources/CPD Toys and Games

Authors/Illustrators

Dapo Adeola Joseph Coelho Julia Donaldson Tom Fletcher Sue Hendra View More...

Browns Recommends

Book Bundles Carnegie Medal for Illustration Great Books to Read Aloud New & Noteworthy Official Book Awards Timeline of Events

Reading and Phonics

Accelerated Reader AR Kids Reading Report '23 AR: Newly Quizzed Book Bands Pie Corbett Collections Reading Schemes

Topics

Fiction by Genre – KS1 Fiction by Genre – KS2 Topic Collections - Early Years Topic Collections - KS1 Topic Collections - KS2

Reading Support

Dual & Foreign Language How to Write a Story Picture Books for KS1 Picture Books for KS2 Reluctant & Dyslexic Readers Wordless Picture Books

Conversation Starters

Black Lives, Black History Diversity Matters Fantastic Females Festivals & Celebrations Looking After Our Planet Refugees & Immigration

Reading for Pleasure

Fantastic Facts Favourite Classroom Reads Film & TV Adaptations Graphic Novels Narrative Non-Fiction Read Around the World

Personal Development

Bullying Awareness Inspirational Lives Mental Health People Who Help Us Read for Empathy 2024 Starting Secondary School

Library Collections

100 Best Fiction for Y1-Y6 100 Best Non-Fiction for Y1-Y6 Favourite Authors, A-Z Series: Early Readers & KS1 Series: Lower KS2 Shakespeare

Classroom Essentials

11+ Exams Dictionaries Numicon Scotland Resources Teacher Resources/CPD Wales Resources

Browns Bestsellers

Bestselling New Fiction Bestselling New Non-Fiction Book Bundles Essential Poetry Favourite Audiobooks Top 50 Graphic Novels

Browns Recommends

2023 Award Winners Children's Laureate 2022-2024 New and Noteworthy Official Book Awards School Book Awards Timeline of Events

Reading for Pleasure

Favourite Authors A-Z Graphic Novels & Manga Narrative Non-Fiction Read Around the World TikTok Made Me Read It TV and Film Adaptations

GCSE by Exam Board

AQA Edexcel IGCSE OCR WJEC / Eduqas View More...

Fiction by Genre

Historical Humour Romance Short Stories Thrillers View More...

Key Debates & Topics

Black Lives, Black History Conflicts & Terrorism Diversity Matters Making Sense of Our World Our Planet in Danger Refugees & Immigration

Non-Fiction by Subject

Biographies Geography History Hobbies Sport View More...

Personal Development

Bullying Awareness Careers Fantastic Females Managing Exam Stress Mental Health Read for Empathy 2024

Reading Support

Accelerated Reader Dual & Foreign Language Graded Readers (CEFR)English Mastery Reluctant & Dyslexic Readers Shakespeare

Classroom Essentials

Dictionaries Northern Ireland (CCEA)Scotland Resources Teacher Resources/CPD Wales Resources

Browns Bestsellers

Audio Books Bestselling New Fiction Bestselling New Non-Fiction Essential Poetry Top 30 Graphic Novels - KS3 Top 30 Graphic Novels - KS4

Browns Recommends

2023 Award Winners AR Kids Reading Report '23 Book Bundles New and Noteworthy Official Book Awards Timeline of Events

Reading for Pleasure

Feel Good Fiction Film and TV Adaptations Graphic Novels & Manga Myths Retold TikTok Made Me Read It View More...

A-Level by Exam Board

AQA Edexcel IAL OCR WJEC / Eduqas View More...

Fiction by Genre

Crime Fantasy Historical Romantic Fiction Sci-Fi View More...

A-Level: Wider Reading

Art Economics Music Philosophy Shakespeare View More...

Non-Fiction by Subject

Biographies Narrative Non-Fiction Popular Science Student Cookbooks True Crime UK Politics

Student Essentials

Careers Managing Exam Stress Money Matters Ready for Uni - Reading Lists Study Skills View More...

Key Debates & Topics

Black Lives, Black History Diversity Matters Fantastic Females Mental Health Our Planet in Danger Refugees & Immigration

Classroom Essentials

Graded Readers (CEFR)Northern Ireland (CCEA)Scotland Resources T Levels Teacher Resources/CPD Wales Resources

Browns Bestsellers

Best New Biographies Bestselling New Fiction Bestselling New Non-Fiction Essential Poetry Now Streaming Quick Reads

Browns Recommends

2023 Award Winners Academic Newsletter DVD Collections New and Noteworthy Official Book Awards Timeline of Events

Reading for Pleasure

Books by Authors of Colour Graphic Novels LGBTQ+ Fiction Now Streaming TikTok Made Me Read It View more...

Education Studies

Early Childhood Studies Early Years Teaching Education Studies Primary Teaching Secondary Teaching SEN Teaching

Student Essentials

Academic Writing & Research Careers Cooking on a Budget Mental Health Money Matters View More...

Health and Medicine

Biomedical Science Dentistry Medicine Midwifery Nursing (Adult)View More...

Key Debates & Topics

AI Conflicts Equality, Inclusion, Diversity Human Migration Net Zero Politics

Law and Politics

Criminal Law European Law Family Law International Relations Law of Tort View More...

Arts and Humanities

Art & Design Drama English Language English Literature Film Studies View More...

Sciences/Engineering

Biology Chemistry Engineering Geography Physics View More...

Business

Accounting Economics Entrepreneurship Management Marketing View More...

Browns Recommends

2023 Award Winners Academic Newsletter Bestselling eBooks New and Noteworthy Official Book Awards Timeline of Events

About VLeBooks

Register for VLeBooks Application Form Request Inspection Copies Leave Feedback FAQs Terms and Conditions

Further Education

Foreign Language titles Graphic Novels & Manga LGBTQ+Mental Health New Fiction View More...

Teacher Hub

CPD Early Years Teaching Primary Teaching Secondary Teaching SEN / SEND Wellbeing for Teachers

FE Curriculum

A Level by Subject Cambridge A-Level IB Diploma Northern Ireland (CCEA)Scotland: Highers/Adv Highers Vocational Training

Primary

Favourite Authors A-Z KS1 Fiction KS2 Fiction Mental Health Primary Topics View More...

Academic

Biographies Crime Fiction Myths Retold New Fiction Romance Fiction Wordsworth Classics

Secondary

Favourite Series Fiction by Genre KS3 Fiction KS4 Fiction Reluctant & Dyslexic Readers View More...

Academic Subjects

Accounting British Politics Dentistry Marketing Psychology View More...

Secondary Curriculum

Careers GCSE by Subject Graded Readers (CEFR)IGCSE Northern Ireland (CCEA)Scotland: National 4/5

Browns Recommends

2023 Award Winners Bestsellers Exclusive Collections New eBooks VLeBooks Promotions

Saved Searches

Loading

My Saved Searches

JIMD Reports, Volume 18 - 18 (2015.)

Baumgartner, Matthias(Edited by), Morava, Eva(Edited by), Patterson, Marc(Edited by), Peters, Verena(Edited by), Rahman, Shamima(Edited by), Zschocke, Johannes(Edited by)

Part of the Jimd Reports series

See all formats and editions

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.

Read More

Product Details

Publisher/Imprint Springer

ISBN/Ean3662448637 / 9783662448632

FormateBook (Adobe Pdf)

Dewey611.01816

Published30/03/2015

Book LanguageEnglish

Pages137 pages

Copy LimitsCopy: 10%; print: 10%

BIC MFGM Metabolism, MFN Medical genetics, MJC Diseases & disorders