Results 111 to 120 of about 21,161 (167)

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB. [PDF]

JIMD Rep
Wijnen M, van Velsen EFS, Milhous JG, Oussoren E, van der Eerden BCJ, Wagenmakers MAEM.   +5 more
europepmc   +1 more source

Mitochondrial morphology and mtDNA content in fibroblasts from patients with different types of mucopolysaccharidosis. [PDF]

Acta Biochim Pol
Walczak K, Gaffke L, Pierzynowska K, Sowa-Rogozińska N, Piotrowska E.   +4 more
europepmc   +1 more source

Diagnostic utility of ultra-microangiography and shear wave elastography in pediatric carpal tunnel syndrome associated with mucopolysaccharidosis. [PDF]

Pediatr Radiol
Seher N, Yılmaz BK, Kahraman AB, Dilek İ, Gümüs H, Öztürk M.   +5 more
europepmc   +1 more source

Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes. [PDF]

Int J Neonatal Screen
Gaviglio A, Bonhomme N, Burton B, Ellinwood NM, Muenzer J, Stephens K, Pathak R, Schaeffer-Koziol C.   +7 more
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

A Rare Case of Mucopolysaccharidosis Presenting With Dysostosis Multiplex and Preserved Intelligence in a Seven-Year-Old Girl From Northeast India. [PDF]

Cureus
Roy P, Roy P.
europepmc   +1 more source

Dental Health in Pediatric Patients With Different Types of Mucopolysaccharidosis: Retrospective Cross-Sectional Study. [PDF]

JMIR Pediatr Parent
Wang M, Liu R, Xia T, Wang Y.
europepmc   +1 more source

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases. [PDF]

Commun Med (Lond)
Tebani A, Guenet D, Torre S, Arion A, Héron B, Brassier A, Belmatoug N, Ausseil J, Bruel H, Lévéque C, Goldenberg A, Gruchy N, Apetrei A, Bach N, Guerrot AM, Samaan S, Ducatez F, Marret S, Bekri S.   +18 more
europepmc   +1 more source

Mucopolysaccharidosis type VI in the Russian registry: Further insights and considerations. [PDF]

World J Clin Pediatr
Malik S.
europepmc   +1 more source

Impact of Mucopolysaccharidosis Type II in Young Children from the Caregiver's Perspective: A Qualitative Study. [PDF]

Adv Ther
Baldwin J, Engmann N, Stanczyk S, McKay K, Pokrzywinski R.   +4 more
europepmc   +1 more source