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Mortality in patients with Sanfilippo syndrome

Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.168-168, Article 168

2017

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A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.173-173, Article 173

2014

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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.20-20, Article 20

2019

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Gastrointestinal disturbances and their management in miglustat-treated patients

Journal of inherited metabolic disease, 2011-10, Vol.34 (5), p.991-1001

2011

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Lipid profile in adult patients with Fabry disease - Ten-year follow up

Molecular genetics and metabolism reports, 2017-12, Vol.13 (C), p.3-6

2017

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Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

BJPsych Bulletin, 2017-04, Vol.41 (2), p.109-114

2017

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The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

Molecular genetics and metabolism reports, 2017-09, Vol.12 (C), p.35-40

2017

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Inborn errors of metabolism for the diagnostic radiologist

Pediatric radiology, 2009-03, Vol.39 (3), p.211-220

Hendriksz, Chris J.

2009

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Bone Marrow Transplantation in Glycogen Storage Disease Type 1b

The Journal of pediatrics, 2008-02, Vol.152 (2), p.286-288

2008

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Improved diagnostic procedures in attenuated mucopolysaccharidosis

British journal of hospital medicine (London, England : 2005), 2011-02, Vol.72 (2), p.91-95

Hendriksz, Chris

2011

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Mortality in Patients with Morquio Syndrome A

JIMD Reports, Volume 15, 2015, Vol.15, p.59-66

2015

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Identification of relevant clinical niches in rare inherited metabolic diseases: Niemann-Pick disease type C as a model

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S64-S64

2017

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Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.36-36, Article 36

2015

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Oculomotor abnormalities in children with Niemann-Pick type C

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.159-168

2018

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Prevalence of intestinal disease as terminal event in mucopolysaccharidosis type III – A study of 136 deceased patients

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S152-S152

2020

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Transfer of high cost drugs to NICE risks fragmentation of care of rare diseases

BMJ (Online), 2012-08, Vol.345 (aug24 1), p.e5727-e5727

2012

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Mucopolysaccharidoses (MPS)

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.177-178

Hendriksz, Christian J.

2013

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Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III

Cognitive neuropsychology, 2018-05, Vol.35 (3-4), p.120-147

2018

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Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.333-352

2019

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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.373-384

2013

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One-year data from the Space4u2talk Emotional Well-being Programme

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S108-S108

2016

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Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Archives of disease in childhood, 2017-11, Vol.102 (11), p.1019-1029

2017

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Pedigree analysis in patients with Fabry disease: Evaluating changes in referral and diagnosis over successive generations

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S70-S70

2015

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The effects of sub-maximal aerobic exercise in adults with late-onset Pompe disease (LOPD)

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S73-S73

2017

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Low Serum Cholesterol Concentration in Adult Patients with Phenylketonuria- One Centre Experience

Clinical & Medical Biochemistry, 2017, Vol.3 (2)

2017

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Mortality in patients with Sanfilippo syndrome

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Gastrointestinal disturbances and their management in miglustat-treated patients

Lipid profile in adult patients with Fabry disease - Ten-year follow up

Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

Inborn errors of metabolism for the diagnostic radiologist

Bone Marrow Transplantation in Glycogen Storage Disease Type 1b

Improved diagnostic procedures in attenuated mucopolysaccharidosis

Mortality in Patients with Morquio Syndrome A

Identification of relevant clinical niches in rare inherited metabolic diseases: Niemann-Pick disease type C as a model

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Oculomotor abnormalities in children with Niemann-Pick type C

Prevalence of intestinal disease as terminal event in mucopolysaccharidosis type III – A study of 136 deceased patients

Transfer of high cost drugs to NICE risks fragmentation of care of rare diseases

Mucopolysaccharidoses (MPS)

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

One-year data from the Space4u2talk Emotional Well-being Programme

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Pedigree analysis in patients with Fabry disease: Evaluating changes in referral and diagnosis over successive generations

The effects of sub-maximal aerobic exercise in adults with late-onset Pompe disease (LOPD)

Low Serum Cholesterol Concentration in Adult Patients with Phenylketonuria- One Centre Experience

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