Christian J. Hendriksz

Stott Lane
Salford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 73 publications

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study.

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study.

Journal: Orphanet journal of rare diseases

Published: September 01, 2025

The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide.

The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide.

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Published: September 08, 2023

Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria.

Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria.

Journal: Molecular genetics and metabolism reports

Published: September 04, 2023

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Journal: Molecular genetics and metabolism reports

Published: July 20, 2023

MPS VII - Extending the classical phenotype.

MPS VII - Extending the classical phenotype.

Journal: Molecular genetics and metabolism reports

Published: September 28, 2022

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Journal: Genes

Published: October 21, 2021

Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA.

Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA.

Journal: Orphanet journal of rare diseases

Published: August 10, 2021

Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.

Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.

Journal: Journal of inherited metabolic disease

Published: July 19, 2021

An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa.

An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa.

Journal: Biopreservation and biobanking

Published: February 10, 2021

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.

Journal: Molecular genetics and metabolism reports

Published: October 12, 2020

Are there common walking gait characteristics in patients diagnosed with late-onset Pompe disease?

Are there common walking gait characteristics in patients diagnosed with late-onset Pompe disease?

Journal: Human movement science

Published: August 13, 2020

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy.

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy.

Journal: Molecular genetics and metabolism reports

Published: July 24, 2020

Showing 1-12 of 73

Last Updated: 09/26/2026