Results 141 to 150 of about 5,931 (183)

Recessive Mutations in Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts [PDF]

core   +1 more source

How do different cell populations orchestrate myelin regeneration? [PDF]

Biochem Soc Trans
Grassi S, Prinetti A.
europepmc   +1 more source

Metachromatic leukodystrophy in infant presenting as acute febrile illness: a case report. [PDF]

Ann Med Surg (Lond)
Acharya S, Upadhaya Regmi B, Adhikari Y, Thapa P, Basnet D, Paudel B.   +5 more
europepmc   +1 more source

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review. [PDF]

Int J Neonatal Screen
Laugwitz L, Shenker A, Sluys EF, Pintat S, Whiteman D, Chanson C.   +5 more
europepmc   +1 more source

Approach to gallbladder polyps in pediatric patients. [PDF]

World J Clin Pediatr
Al Atrash E, Ammori B.
europepmc   +1 more source

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review. [PDF]

JBI Evid Synth
Koto Y, Ueki S, Yamakawa M, Sakai N.
europepmc   +1 more source

Natural history of adult-onset metachromatic leukodystrophy. [PDF]

J Neurol
Mandia D, Dufour J, Fenu S, Salsano E, Benzoni C, Sellal F, Pariente J, Cengiz N, Pettazzoni M, Levade T, Lamari F, Caillaud C, La Piana R, Brassat D, Durand-Dubief F, Besson G, Odent S, Devos D, Barbay M, Makrygianni M, Kumperscak HG, Froissart R, Nadjar Y.   +22 more
europepmc   +1 more source

A hierarchical and configurational analysis of Health Technology Assessment outcomes for cell and gene therapies. [PDF]

Front Pharmacol
Almalki ZS, Alshammari RM, Dahduli NA, Nagi MA, Juweria S, Alhamdani MM, Alzahrani YM, Almazrou SH, Ahmed NJ, Alahmari AK, Alshlowi AA.   +10 more
europepmc   +1 more source

Metachromatic leukodystrophy

, 2018
openaire   +1 more source

Overview of Neuro-Ophthalmic Findings in Leukodystrophies. [PDF]

J Clin Med
Bettinger CM, Dulz S, Atiskova Y, Guerreiro H, Schön G, Guder P, Maier SL, Denecke J, Bley AE.   +8 more
europepmc   +1 more source