D. Whiteman

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A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

W. Hwu, R. Giugliani, A. Tylki-Szymańska, 2013, Genetics in Medicine.

Cerebrovascular complications in Ehlers‐Danlos syndrome type IV

P. Byers, K. North, D. Whiteman, 1995, Annals of neurology.

Primer on medical genomics part II: Background principles and methods in molecular genetics.

E. Wieben, A. Tefferi, G. Dewald, 2002, Mayo Clinic proceedings.

The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase.

D. Whiteman, A. Pano, D. Amato, 2013, Molecular genetics and metabolism.

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS).

B. Burton, D. Whiteman, 2011, Molecular genetics and metabolism.

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

R. Weksberg, B. Williams, J. Squire, 1993, Human molecular genetics.

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

B. Burton, R. Giugliani, S. Jones, 2017, Orphanet Journal of Rare Diseases.

Mucolipidosis type IV: clinical manifestations and natural history.

D. Chitayat, K. Hodgkinson, D. Whiteman, 1991, American journal of medical genetics.

Identical twins with Cohen syndrome.

A. Fulton, K. North, D. Whiteman, 1995, American journal of medical genetics.

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B

P. Haslett, D. Whiteman, I. Nestrasil, 2018, The Journal of pediatrics.

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

C. Eng, M. Shinawi, U. Ramaswami, 2011, Genetics in Medicine.

Defects of mitochondrial β-oxidation: a growing group of disorders

J. Vockley, D. Whiteman, 2002, Neuromuscular Disorders.

Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum

K. Kraemer, D. Whiteman, H. Levy, 1999, Journal of Inherited Metabolic Disease.

Idursulfase pharmacokinetics, cellular uptake, and pharmacodynamics: Effect of sialylation and manufacturing process

J. Muenzer, D. Whiteman, J. Lamsa, 2020, Engineering Reports.

Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.

T. Rasmussen, P. Rose, D. Whiteman, 2002, Mayo Clinic proceedings.

Defects of mitochondrial beta-oxidation: a growing group of disorders.

J. Vockley, D. Whiteman, 2002, Neuromuscular disorders : NMD.

Folate deficiency and acute intermittent porphyria in a 12‐year‐old boy

J. Quinn, D. Whiteman, B. Russman, 1993, Neurology.

Diagnosis and management of defects of mitochondrial β-oxidation

J. Vockley, Rani H. Singh, D. Whiteman, 2002 .

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

C. Hendriksz, R. Giugliani, D. Whiteman, 2017, Molecular genetics and metabolism reports.

Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)

D. Whiteman, A. Pano, D. Amato, 2015, Orphanet Journal of Rare Diseases.

Diagnosis and management of defects of mitochondrial beta-oxidation.

J. Vockley, Rani H. Singh, D. Whiteman, 2002, Current opinion in clinical nutrition and metabolic care.

Primer on medical genomics part I: History of genetics and sequencing of the human genome.

E. Wieben, A. Tefferi, G. Dewald, 2002, Mayo Clinic proceedings.

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

A. Guttmacher, D. Whiteman, S. Cassidy, 1991, American journal of medical genetics.

Brief clinical report: a 46,XY phenotypic female with Smith‐Lemli‐Opitz syndrome

V. Herson, D. Whiteman, R. Greenstein, 1991, Clinical genetics.

CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

B. Korf, K. North, B. Wu, 1995, American journal of medical genetics.

Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physician.

D. Tester, M. Ackerman, A. Tefferi, 2003, Mayo Clinic proceedings.

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

D. Whiteman, Alan Kimura, David AH Whiteman, 2017, Drug design, development and therapy.

The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life

I. Wiklund, D. Whiteman, Wen-Hung Chen, 2013, Orphanet Journal of Rare Diseases.

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: evaluation of measurement properties

D. Stull, I. Wiklund, D. Whiteman, 2013, Quality of Life Research.

Limb anomalies in DiGeorge and CHARGE syndromes.

B. Korf, D. Whiteman, C. Prasad, 1997, American journal of medical genetics.

Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas.

J. Mulliken, M. Hansen, D. Whiteman, 1996, American journal of medical genetics.

Optic nerve coloboma associated with renal disease.

K. Geisinger, D. Whiteman, M. Ball, 1988, American journal of medical genetics.

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy

A. Gropman, F. Scaglia, A. Feigenbaum, 2006, Genetics in Medicine.

Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II

Madhusudan Natarajan, D. Whiteman, D. Alexanderian, 2023, Molecular Genetics and Metabolism.

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation

I. Wiklund, J. Muenzer, D. Whiteman, 2014, Quality of Life Research.

Industry Perspectives on Orphan Drug Development

D. Whiteman, N. Barton, S. Grégoire, 2014 .