Results 111 to 120 of about 955 (143)

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program. [PDF]

open access: yesInt J Neonatal Screen
Malvagia S   +21 more
europepmc   +1 more source

FUNCTIONAL CHARACTERIZATION OF TWO NOVEL SUMF1 MUTATIONS LEADING TO A MILD PHENOTYPE IN MULTIPLE SULFATASE DEFICIENCY

open access: yes, 2018
Schlotawa, Lars   +6 more
openaire   +1 more source

Change in the chondroitin/dermatan structure in distal lung tissue from COPD patients. [PDF]

open access: yesSci Rep
Alsafadi HN   +10 more
europepmc   +1 more source

Neurosurgical gene therapy for central nervous system diseases. [PDF]

open access: yesNeurotherapeutics
Patel RV, Nanda P, Richardson RM.
europepmc   +1 more source

Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson's disease. [PDF]

open access: yesActa Neuropathol
Rutledge J   +20 more
europepmc   +1 more source

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