Skip to main content

ResearchHubLoading navigation…

Loading ResearchHub…

Molecular Genetics and Metabolism Reports - ResearchHub

Explore the network

Research, people, journals and institutions — all in one place.

Explore

01Research 02Smart search 03Researchers 04Journals 05Institutions 06RHR Rankings 07ResearchHub platform 08Events

Work together

Turn ideas into projects, questions and reusable datasets.

Connect

01Projects 02Questions 03Datasets

Stay informed

Follow trends, opportunities and your research library.

Insights

01Research trends 02Opportunities 03Library 04Research services 05ResearchHub Pro 06Pricing

ResearchHub

Explore ResearchHub.

Personal

01Recommended research 02Research intelligence

Home Search Network Library Log in

ResearchHub

Research, connected

Explore the graph

X

Download ResearchHub

GET IT ONGoogle PlayComing soonDownload on theApp StoreComing soonEXPLORE IT ONAppGalleryComing soon

Research

Research Researchers Journals Institutions RHR Rankings

Contribute

Projects Questions Datasets Opportunities

Platform

ResearchHub platform About Blog Community Help API Licensing

Shopping

Contact and support

Need help, have a question, or want to contact the ResearchHub team?

Contact and support support@aresearch.uk

© 2026 ResearchHub. Built for responsible scholarly connection.

Help Article feed Privacy Terms Cookies This work is licensed under Creative Commons Attribution 4.0 InternationalCC BY 4.0

Privacy-aware community infrastructure

Journal

Molecular Genetics and Metabolism Reports

2214-4269 · Elsevier BV

4 verified public works

Browse all journals →

Classic Ataxia–Telangiectasia associated with a homozygous missense ATM variant: A case report

2026 · 0 citations

A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction

2026 · 0 citations

Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings

2026 · 0 citations

The psychological burden of nutritional treatment in inherited metabolic disorders: Navigating daily life

2026 · 0 citations

Page 1 of 1