Results 281 to 290 of about 12,628,087 (402)

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis. [PDF]

open access: yesJ Inherit Metab Dis
Reischl-Hajiabadi AT   +8 more
europepmc   +1 more source

Diagnosis? [PDF]

open access: yesCanadian Journal of Infectious Diseases and Medical Microbiology, 1997
openaire   +3 more sources

Central Dysmyelination in SSADH‐Deficient Humans and Mice

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer   +11 more
wiley   +1 more source

A machine learning tool for predicting newly diagnosed osteoporosis in primary healthcare in the Stockholm Region. [PDF]

open access: yesSci Rep
Wändell P   +7 more
europepmc   +1 more source

A clinical approach to diagnosis of autoimmune encephalitis

open access: yesLancet Neurology, 2016
F. Graus   +27 more
semanticscholar   +1 more source

Serum Neurofilament Light Chain in Multiple Sclerosis: Superiority of Age‐ and BMI‐Corrected Z Scores/Percentiles Over Absolute Cutoff Values for Prediction of Treatment Response

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age‐ and BMI‐adjusted) with absolute concentrations for the prediction of response to disease‐modifying therapy.
Maximilian Einsiedler   +43 more
wiley   +1 more source

Impact of head and neck cancer on the income of Italian employees. [PDF]

open access: yesBMC Public Health
Macciotta A   +8 more
europepmc   +1 more source

MRI‐Targeted or Standard Biopsy for Prostate‐Cancer Diagnosis

open access: yesNew England Journal of Medicine, 2018
V. Kasivisvanathan   +40 more
semanticscholar   +1 more source

DIAGNOSIS OF OSTEOPOROSIS

open access: yesOsteoporosis and Bone Diseases, 1997
John A. Kanis, Kanis John A
openaire   +5 more sources

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