Results 111 to 120 of about 23,853 (147)
Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome. [PDF]
Ann Med Surg (Lond)Feroz M +4 more
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Letter to the Editor - Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements? [PDF]
J Comp Eff ResFalchetto R, Barman-Aksözen J.
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Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA. [PDF]
Curr Issues Mol BiolCelik B +4 more
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Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations. [PDF]
BiomedicinesVenezia M +5 more
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Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia. [PDF]
Int J Mol SciVanegas S +3 more
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Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA. [PDF]
Curr Issues Mol BiolKhan SA +5 more
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The Journal of Pediatrics, 1970
Two sibs, the children of healthy unrelated parents, have been evaluated because of multiple soft tissue contractures. Both were found to excrete excessive amounts of mucopolysaccharides, primarily heparitin sulfate, and chondroitin sulfate B. Neither had the bony abnormalities characteristic of the other disorders of mucopolysaccharide metabolism, but
W A, Horton, R N, Schimke
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Two sibs, the children of healthy unrelated parents, have been evaluated because of multiple soft tissue contractures. Both were found to excrete excessive amounts of mucopolysaccharides, primarily heparitin sulfate, and chondroitin sulfate B. Neither had the bony abnormalities characteristic of the other disorders of mucopolysaccharide metabolism, but
W A, Horton, R N, Schimke
openaire +2 more sources
Rivista europea per le scienze mediche e farmacologiche = European review for medical and pharmacological sciences = Revue europeenne pour les sciences medicales et pharmacologiques, 1990
The mucopolysaccharidoses comprise a heterogeneous group of inborn errors of metabolism. Usually these disorders culminate in severe disability over many years, and only seldom result in death in infancy. The prospect of gaining a certain amount of control over the incidence and progression of these rare but costly diseases amply justifies the large ...
A, Cantani, F, Mastrantoni
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The mucopolysaccharidoses comprise a heterogeneous group of inborn errors of metabolism. Usually these disorders culminate in severe disability over many years, and only seldom result in death in infancy. The prospect of gaining a certain amount of control over the incidence and progression of these rare but costly diseases amply justifies the large ...
A, Cantani, F, Mastrantoni
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Revue de stomatologie et de chirurgie maxillo-faciale, 1981
The different types of mucopolysaccharidosis, due to a congenital absence of a lysosomial dehydrolysase acid, are the origin of facial deformities. Precise diagnosis depends on the results of biochemical and histological examinations.
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The different types of mucopolysaccharidosis, due to a congenital absence of a lysosomial dehydrolysase acid, are the origin of facial deformities. Precise diagnosis depends on the results of biochemical and histological examinations.
openaire +1 more source