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1

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)

Solanki, Guirish A., Sun, Peter P., Martin, Kenneth W., Hendriksz, Christian J., Lampe, Christina, Guffon, Nathalie, Hung, Annie, Sisic, Zlatko, Shediac, Renée, Harmatz, Paul R.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.03 MB

english, 2016

2

Glycogen storage disease

Christian J. Hendriksz, Paul Gissen

Journal:

Paediatrics and Child Health

Year:

2011

Language:

english

File:

PDF, 103 KB

english, 2011

3

Niemann-Pick disease type C symptomatology: an expert-based clinical description

Mengel, Eugen, Klünemann, Hans-Hermann, Lourenço, Charles M, Hendriksz, Christian J, Sedel, Frédéric, Walterfang, Mark, Kolb, Stefan A

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 294 KB

english, 2013

4

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

Hendriksz, Christian J, Lavery, Christine, Coker, Mahmut, Ucar, Sema, Jain, Mohit, Bell, Lisa, Lampe, Christina

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 496 KB

english, 2014

5

Glycogen storage disease

Hendriksz, Christian J., Gissen, Paul

Journal:

Paediatrics and Child Health

Year:

2015

Language:

english

File:

PDF, 152 KB

english, 2015

6

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Hendriksz, Christian J., Berger, Kenneth I., Lampe, Christina, Kircher, Susanne G., Orchard, Paul J., Southall, Rebecca, Long, Sarah, Sande, Stephen, Gold, Jeffrey I.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 992 KB

english, 2016

7

Assessing the effectiveness of miglustat in Niemann-Pick disease type C

Hendriksz, Christian J., Pineda, Mercè, Walterfang, Mark, Patterson, Marc C.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

8

Evidence-based, expert-agreed recommendations for the management of patients with MPS IVA/VI: Recommendations to replace the specific missing enzyme

Hendriksz, Christian, Giugliani, Roberto, Harmatz, Paul, Scarpa, Maurizio

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 139 KB

english, 2019

9

Long Term Outcomes of a Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

Christian Hendriksz, Ashok Vellodi, Simon Jones, Hiwot Takkele, S. Lee, Sarah Chesler, Celeste Decker

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

10

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Marc C. Patterson, Christian J. Hendriksz, Mark Walterfang, Frederic Sedel, Marie T. Vanier, Frits Wijburg

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

11

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Harmatz, Paul, Mengel, Karl Eugen, Giugliani, Roberto, Valayannopoulos, Vassili, Lin, Shuan-Pei, Parini, Rossella, Guffon, Nathalie, Burton, Barbara K., Hendriksz, Christian J., Mitchell, John, Martin

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 765 KB

english, 2013

12

Mucopolysaccharidoses (MPS)

Hendriksz, Christian J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 68 KB

english, 2013

13

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

James E. Wraith, Frédéric Sedel, Mercèdes Pineda, Frits A. Wijburg, Christian J. Hendriksz, Michael Fahey, Mark Walterfang, Marc C. Patterson, Harbajan Chadha-Boreham, Stefan A. Kolb…show all 10hide

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 642 KB

english, 2014

14

Galsulfase for mucopolysaccharidosis type VI: analysis of clinical data since 2000

Harmatz, Paul, Hendriksz, Christian J., Giugliani, Roberto, Braunlin, Elizabeth A., Quartel, Adrian

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

15

A multi-national, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of BMN 110 treatment for mucopolysaccharidosis IVA (Morquio syndrome type A)

Hendriksz, Christian, Burton, Barbara K., Fleming, Thomas, Giugliani, Roberto, Harmatz, Paul, Hughes, Derralynn, Jones, Simon, Lin, Shuan-Pei, Mengel, Karl Eugen, Scarpa, Maurizio, Valayannopoulos, Va

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 65 KB

english, 2013

16

Limited clinical impact of anti-idursulfase antibodies developed during long-term idursulfase enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome) patients aged 5-35 years

Harmatz, Paul, Giugliani, Roberto, Mendelsohn, Nancy J., Vellodi, Ashok, Kunes, Yune, Sciarappa, Kenneth, Bielefeld, Bonnie, Barbier, Ann J., Pano, Arian, Hendriksz, Christian J., Vijayaraghavan, Sure

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

17

Disruption of enamel crystal formation quantified by synchrotron microdiffraction

Al-Jawad, Maisoon, Addison, Owen, Khan, Malik Arshman, James, Alison, Hendriksz, Christian J.

Journal:

Journal of Dentistry

Year:

2012

Language:

english

File:

PDF, 922 KB

english, 2012

18

Investigational intrathecal (IT) enzyme replacement therapy for the severe form of Hunter syndrome (mucopolysaccharidosis type II, MPS II)

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Perry, Victor, Santra, Saikat, Solanki, Guirish A., Wang, Nan, Mascelli,

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

19

OBITUARY

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Perry, Victor, Santra, Saikat, Solanki, Guirish A., Wang, Nan, Mascelli,

Journal:

Year:

1938

Language:

english

File:

PDF, 848 KB

english, 1938

20

Burden of disease suffered by patients with Morquio syndrome type A: results from a patient-reported outcomes survey

Hendriksz, Christian J., Lavery, Christine, Lampe, Christina, Bell, Lisa, Jain, Mohit

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

21

Burden of disease suffered by caregivers of patients with Morquio syndrome type A: results from a self-reported outcomes survey

Lampe, Christina, Hendriksz, Christian J., Lavery, Christine, Bell, Lisa, Jain, Mohit

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 96 KB

english, 2014

22

High sensitivity troponin T in a cohort of Fabry patients with left ventricular hypertrophy

Sharma, Reena, Jovanovic, Ana, Hendriksz, Christian, Woolfson, Peter

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 78 KB

english, 2013

23

Detection of Niemann-Pick type C mutations in infants with liver disease using targeted next generation sequencing

McKay, Kirsten E., Ruth, Nicola, Gray, Zoe, Lloyd, Carla, Hartley, Jane L., Macdonald, Fiona, Hendriksz, Christian, Gissen, Paul, Kelly, Deirdre A.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

24

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Cammarata, Sue, Barbier, Ann J.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

25

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome)

Davison, James E., Hendriksz, Christian J., Sun, Yu, Davies, Nigel P., Gissen, Paul, Peet, Andrew C.

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

26

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Hendriksz, Christian J., Burton, Barbara, Fleming, Thomas R., Harmatz, Paul, Hughes, Derralynn, Jones, Simon A., Lin, Shuan-Pei, Mengel, Eugen, Scarpa, Maurizio, Valayannopoulos, Vassili, Giugliani, R

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 358 KB

english, 2014

27

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

Christian J. Hendriksz,Maisoon Al-Jawad…

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 253 KB

english, 2013

28

International guidelines for the management and treatment of Morquio A syndrome

Hendriksz, Christian J., Berger, Kenneth I., Giugliani, Roberto, Harmatz, Paul, Kampmann, Christoph, Mackenzie, William G., Raiman, Julian, Villarreal, Martha Solano, Savarirayan, Ravi

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 342 KB

english, 2015

29

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

Harmatz, Paul R., Mengel, Karl Eugen, Giugliani, Roberto, Valayannopoulos, Vassili, Lin, Shuan-Pei, Parini, Rossella, Guffon, Nathalie, Burton, Barbara K., Hendriksz, Christian J., Mitchell, John J.,

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 845 KB

english, 2015

30

Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial

Hendriksz, Christian J., Giugliani, Roberto, Harmatz, Paul, Mengel, Eugen, Guffon, Nathalie, Valayannopoulos, Vassili, Parini, Rossella, Hughes, Derralynn, Pastores, Gregory M., Lau, Heather A., Al-Sa

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 369 KB

english, 2015

31

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

Charrow, Joel, Alden, Tord D., Breathnach, Catherine Ann R., Frawley, Geoffrey P., Hendriksz, Christian J., Link, Bianca, Mackenzie, William G., Manara, Renzo, Offiah, Amaka C., Solano, Martha L., The

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

32

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Muenzer, Joseph, Hendriksz, Christian J., Fan, Zheng, Vijayaraghavan, Suresh, Perry, Victor, Santra, Saikat, Solanki, Guirish A., Mascelli, Mary Ann, Pan, Luying, Wang, Nan, Sciarappa, Kenneth, Barbie

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 679 KB

english, 2015

33

Antibody response to investigational intrathecal enzyme replacement therapy with idursulfase-IT in pediatric Hunter syndrome patients with cognitive impairment

Hendriksz, Christian J., Muenzer, Joseph, Vijayaraghavan, Suresh, Fan, Zheng, Santra, Saikat, Pan, Luying, Wang, Nan, Qiu, Yongchang, Barbier, Ann J.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

34

The evaluation of psychological therapy interventions to improve emotional wellbeing in patients with lysosomal disorders

Hendriksz, Christian, Southall, Rebecca

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

35

Long-term biomarker and cognitive follow-up of children with Hunter syndrome receiving intrathecal enzyme replacement therapy

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Santra, Saikat, Solanki, Guirish A., Pan, Luying, Wang, Nan, Mascelli, M

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 103 KB

english, 2015

36

Very early umbilical cord blood transplantation delays but does not prevent neurodegeneration in infantile Sandhoff disease

Santra, Saikat, Vijay, Suresh, Simmons, Louise, Chakrapani, Anupam, Hendriksz, Christian J., Lawson, Sarah, Norton, Alice, Wassmer, Evangeline

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

37

Synchrotron X-ray Diffraction And Scanning Electron Microscopy To Understand Enamel Affected By Metabolic Disorder Mucopolysaccharidosis

Khan, Malik Arshman, Addison, Owen, James, Alison, Hendriksz, Christian J., Al-Jawad, Maisoon

Journal:

Year:

2016

Language:

english

File:

PDF, 1.29 MB

english, 2016

38

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stepien, Karolina M., Hendriksz, Christian J., Roberts, Mark, Sharma, Reena

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 521 KB

english, 2016

39

Successful implementation of plasma oxysterol for screening of Niemann-Pick disease type C in Manchester, UK

Church, Heather J., Wu, Hoiyee, Cooper, James, Tylee, Karen L., Heptinstall, Lesley, Hartley, Claire, Phillippo, Sarah, Jameson, Elisabeth, Broomfield, Alexander, Hendriksz, Christian, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 55 KB

english, 2016

40

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Barbier, Ann J.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 324 KB

english, 2015

41

Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type A

Hendriksz, Christian J., Burton, Barbara K., AlSayed, Moeen D., Giugliani, Roberto, Guelbert, Norberto, Hughes, Derralyn, Mealiffe, Matthew, Mitchell, John J., Parini, Rossella, Raiman, Julian, Shaywi

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

42

Impact of elosulfase alfa in patients with Morquio syndrome type A who have limited ambulation: An open-label, phase 2 study

Harmatz, Paul R., Jester, Andrea, Mengel, Eugen, Treadwell, Marsha, Burton, Barbara K., Berger, Kenneth I., Hendriksz, Christian J., Geberhiwot, Tarekegn, Sisic, Zlatko, Decker, Celeste

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

43

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Vanier, Marie T., Gissen, Paul, Bauer, Peter, Coll, Maria J., Burlina, Alberto, Hendriksz, Christian J., Latour, Philippe, Goizet, Cyril, Welford, Richard W.D., Marquardt, Thorsten, Kolb, Stefan A.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 530 KB

english, 2016

44

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Hendriksz, Christian J., Berger, Kenneth I., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, H

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 510 KB

english, 2016

45

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Hendriksz, Christian J., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Solano Villarreal, Martha L., Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

46

Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome)

Hendriksz, Christian J.

Journal:

Expert Review of Clinical Pharmacology

Year:

2016

Language:

english

File:

PDF, 1.22 MB

english, 2016

47

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

Harmatz, Paul R., Mengel, Eugen, Geberhiwot, Tarekegn, Muschol, Nicole, Hendriksz, Christian J., Burton, Barbara K., Jameson, Elisabeth, Berger, Kenneth I., Jester, Andrea, Treadwell, Marsha, Sisic, Z

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 538 KB

english, 2017

48

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

Mengel, Eugen, Pineda, Mercedes, Hendriksz, Christian J., Walterfang, Mark, Torres, Juan V., Kolb, Stefan A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 819 KB

english, 2017

49

A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Santra, Saikat, Solanki, Guirish A., Pan, Luying, Alexanderian, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

50

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

Hendriksz, Christian J., Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Chakrapani, Anupam, Corvol, Jean-Christophe, de Koning, Tom J., Degtyareva, Anna, Dionisi-Vici, Carlo, Doss, Sarah, Duning, Tho

Journal:

Current Medical Research and Opinion

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017