Results 131 to 140 of about 25,294 (214)

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis. [PDF]

Int J Neonatal Screen
Thampy R, Pillai NR, Evans M, Whitley CB, Orchard PJ, Ellinwood M, Gaviglio A.   +6 more
europepmc   +1 more source

Mucopolysaccharidosis

, 2010
openaire   +1 more source

Guidance for Home Enzyme Replacement Therapy in Children and Adolescents Diagnosed with Mucopolysaccharidoses: A Scoping Review Protocol. [PDF]

Int J Environ Res Public Health
Oliveira VR, Martins YNF, Araújo JIF, Silva EFD, Fuentes MB, Oliveira JSA.   +5 more
europepmc   +1 more source

Mucopolysaccharidosis

, 2021
openaire   +1 more source

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 more
europepmc   +1 more source

A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib. [PDF]

Iran J Pathol
Vahedi-Larijani L, Sotoudeh Anvari M, Biglari A, Nabati M, Banihashemi H, Mohammadi Kharkeshi M.   +5 more
europepmc   +1 more source

Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study. [PDF]

Neurol Int
Wiertel-Krawczuk A, Krawczuk Z, Huber J.
europepmc   +1 more source

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation. [PDF]

BMC Pediatr
Zou H, Yang L, Qin Y, Zhang R.
europepmc   +1 more source

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology. [PDF]

Case Rep Ophthalmol Med
Lobo R, Al-Hinai A, Al Busaidi A.
europepmc   +1 more source

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review. [PDF]

BMC Pediatr
Liu RY, Dai YL, Zou CC.
europepmc   +1 more source