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Lachman, Ralph S.

doi:10.1016/b978-0-323-01931-6.50035-9

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias 2007

DOI: 10.1016/b978-0-323-01931-6.50035-9

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Ralph S. Lachman¹

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Cited by 2 publications

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Early Diagnosis and Treatment of Patients with Mucopolysaccharidosis IV and VI

Mikhailova

Соколова

Polyakova

2016

Vestn. travmatol. ortop. im. N.N. Priorova

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Mucopolysaccharidosis (MPS) is an orphan pathology characterized by polymorphism of clinical manifestations and development of typical skeletal changes. However in early childhood the clinical picture is not clear that leads to misdiagnosis and results in inadequate management of patients including unjustified surgical intervention. Early clinical and roentgenologic changes specific to mucopolysaccharidosis IV and VI that enable to suspect the pathology development, to perform required examination with compulsory confirmation by DNA testing results and prescribe vital enzyme replacement therapy as soon as possible are presented. Early diagnosis and initiation of etiotropic treatment and timely correction of the occurring pathology ensure prevention of fatal complications.

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Early Diagnosis and Treatment of Patients with Mucopolysaccharidosis IV and VI

Mikhailova

Соколова

Polyakova

2016

Vestn. travmatol. ortop. im. N.N. Priorova

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Late Diagnosis of Mucopolysaccharidosis Type Iv (Maroteaux–lamy Syndrome)

Mikhailova

Polyakova

Zakharova

et al. 2017

Vestn. travmatol. ortop. im. N.N. Priorova

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Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 level, cervical myelopathy and spastic tetraparesis that required surgical intervention. Special attention was paid to the genetic aspects of diagnosis and potential causes of delayed disease development.

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Cited by 2 publications

References 268 publications

Early Diagnosis and Treatment of Patients with Mucopolysaccharidosis IV and VI

Early Diagnosis and Treatment of Patients with Mucopolysaccharidosis IV and VI

Late Diagnosis of Mucopolysaccharidosis Type Iv (Maroteaux–lamy Syndrome)

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