Results 131 to 140 of about 7,809 (216)

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia. [PDF]

Int J Mol Sci
Vanegas S, Ramírez-Montaño D, Padilla-Guzmán A, Pachajoa H.   +3 more
europepmc   +1 more source

Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis. [PDF]

Mol Genet Metab Rep
Menkovic I, Williams M, Makhijani N, Wei R, Young SP, El-Gharbawy A, Stiles AR.   +6 more
europepmc   +1 more source

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025]. [PDF]

Mol Genet Metab
Kolstad J, Zoppo C, Johnston JM, D'Souza P, Kühn AL, Vardar Z, Peker A, Hader A, Celik H, Lewis CJ, Lindsay C, Rentiya ZS, Lebel C, Vedantham S, Vachha B, Gray-Edwards HL, Acosta MT, Tifft CJ, Shazeeb MS.   +18 more
europepmc   +1 more source

A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis. [PDF]

NeuroSci
Lewis CJ, Johnston JM, D'Souza P, Kolstad J, Zoppo C, Vardar Z, Kühn AL, Peker A, Rentiya ZS, Yousef MH, Gahl WA, Shazeeb MS, Tifft CJ, Acosta MT.   +13 more
europepmc   +1 more source

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts. [PDF]

Orphanet J Rare Dis
Lewis CJ, Johnston JM, Zaragoza Domingo S, Vezina G, D'Souza P, Gahl WA, Adams DA, Tifft CJ, Acosta MT.   +8 more
europepmc   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source

Adeno-associated virus expressing a blood-brain barrier-penetrating enzyme improves GM1 gangliosidosis in a preclinical model. [PDF]

J Clin Invest
Matsushima SK, Shimada Y, Kinoshita M, Nagashima T, Okamoto S, Iizuka S, Takagi H, Iizuka S, Higuchi T, Hioki H, Watabe AM, Sonoda H, Ohashi T, Kobayashi H.   +13 more
europepmc   +1 more source

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases. [PDF]

Mol Genet Metab Rep
Yoldaş Çelik M, Köşeci B, Burgaç E, Yararbaş K.   +3 more
europepmc   +1 more source

Epileptic seizures in cats: practical approaches to diagnosis. [PDF]

J Feline Med Surg
Sivolapenko D, Lowrie M.
europepmc   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source