D. Ketteridge

发表

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.

D. Brooks, L. Karageorgos, J. Hopwood, 2004, Molecular Genetics and Metabolism.

Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series

D. Goldfarb, J. Sayer, P. Rich, 2020, Urolithiasis.

Mutational analysis of 105 mucopolysaccharidosis type VI patients

D. Brooks, R. Giugliani, L. Karageorgos, 2007, Human mutation.

Cannabis cookies: A cause of coma

D. Ketteridge, C. Boros, G. D. Zoanetti, 1996, Journal of paediatrics and child health.

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.

J. Weisfeld-Adams, E. Wartchow, C. Galambos, 2019, JIMD reports.

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

D. Ketteridge, M. Fuller, 2021, JIMD reports.

An overview of intra-articular therapy for mucopolysaccharidosis VI.

J. Hopwood, S. Byers, D. Ketteridge, 2010, Journal of pediatric rehabilitation medicine.

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study

R. Giugliani, P. Harmatz, N. Guffon, 2018 .

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study

R. Giugliani, P. Harmatz, N. Guffon, 2014, American journal of medical genetics. Part A.

Clinical presentation and outcome in a series of 88 patients with the cblC defect

M. Baumgartner, H. Mandel, E. Martins, 2014, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

G. Gildengorin, R. Giugliani, J. E. Wraith, 2012, Journal of Inherited Metabolic Disease.

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2008, Molecular genetics and metabolism.

The mucopolysaccharidoses: advances in medical care lead to challenges in orthopaedic surgical care.

N. Williams, D. Ketteridge, D. Eastwood, 2017, The bone & joint journal.

Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase

R. Giugliani, J. Hopwood, E. Teles, 2005, Pediatrics.

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome)

R. Giugliani, J. Hopwood, E. Teles, 2005, American journal of medical genetics. Part A.

Dietary L-Tyrosine Supplementation in Nemaline Myopathy

K. North, A. Kornberg, S. Iannaccone, 2008, Journal of child neurology.

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

K. Friend, E. Haan, J. Mulley, 2014, Pathology.

Mutations of the mitochondrial ND1 gene as a cause of MELAS

D. Turnbull, A. Ohtake, M. Ryan, 2004, Journal of Medical Genetics.

Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis

N. Williams, D. Ketteridge, G. Antoniou, 2020, Journal of child neurology.

Response to Ly Pen and Andreu: Response to: “Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis”

N. Williams, D. Ketteridge, 2020 .

SURF1 deficiency: a multi-centre natural history study

Robert W. Taylor, E. Aasheim, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

Chagas's disease in the Amazon Basin: Ii. The distribution of Trypanosoma cruzi zymodemes 1 and 3 in Pará State, north Brazil.

J. Shaw, M. Miles, R. Lainson, 1981, Transactions of the Royal Society of Tropical Medicine and Hygiene.

Expanding the spectrum of gestational alloimmune liver disease

D. Ketteridge, D. Moore, E. Last, 2021, Journal of paediatrics and child health.

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency

K. Gibson, D. Gavrilov, G. Hoganson, 2007, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Zi-Fan Yu, Maurizio Scarpa, Paul Harmatz, 2010, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2010, Journal of pediatric rehabilitation medicine.

Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): 15 year follow-up from the survey study

R. Giugliani, P. Harmatz, N. Guffon, 2017 .

Expert recommendations for the laboratory diagnosis of MPS VI.

W. Hwu, M. Pasquali, C. Hendriksz, 2012, Molecular genetics and metabolism.

Differentiation of newly isolated strains of Trypanosoma (Schizotrypanum) cruzi by agglutination and precipitation reactions.

D. Ketteridge, 1975, Acta tropica.

Lipopolysaccharide from Trypanosoma cruzi.

D. Ketteridge, 1978, Transactions of the Royal Society of Tropical Medicine and Hygiene.

Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature review

N. Williams, D. Ketteridge, Damian Clark, 2019, JIMD reports.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

M. Cowley, T. Roscioli, J. Christodoulou, 2017, Journal of Inherited Metabolic Disease.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment

S. McCandless, A. Larson, J. V. Van Hove, 2021, Journal of inherited metabolic disease.

Presentation of m.3243A>G (MT‐TL1; tRNALeu) variant with focal neurology in infancy

K. Kassahn, H. Scott, D. Ketteridge, 2015, American journal of medical genetics. Part A.