Results 131 to 140 of about 5,931 (183)

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source

Metachromatic leukodystrophy

, 2014
openaire   +1 more source

Metachromatic leukodystrophy [PDF]

, 2020
openaire   +1 more source

A Rare Clinical Confluence: Metachromatic Leukodystrophy and Distal Renal Tubular Acidosis. [PDF]

Indian J Nephrol
Kumar N, Panda S, Shanker A.
europepmc   +1 more source

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. [PDF]

Mol Genet Metab
Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA.   +8 more
europepmc   +1 more source

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures. [PDF]

Eur Radiol
Stellingwerff MD, Al-Saady ML, Chan KS, Dvorak A, Marques JP, Kolind S, Schoenmakers DH, van Voorst R, Roosendaal SD, Barkhof F, Wolf NI, Berkhof J, Pouwels PJW, van der Knaap MS.   +13 more
europepmc   +1 more source

A novel homozygous <i>PSAP</i> mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report. [PDF]

J Int Med Res
Li X, Kuang X, Huang G, Liu Z, Yan S.
europepmc   +1 more source

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families. [PDF]

J Child Neurol
Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA.   +12 more
europepmc   +1 more source

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

Fertility preservation by ovarian tissue cryopreservation of children in China--umbilical single-incision surgery and perioperative experience. [PDF]

Front Endocrinol (Lausanne)
Qipeng Z, Jing L, Yun S, Zexi L, Zhenhua C, Meng C, Yan Z, Hua Z, Zecheng W, Yu T, Xiangyan R, Yurui W.   +11 more
europepmc   +1 more source