Results 151 to 160 of about 4,196 (206)

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE). [PDF]

Orphanet J Rare Dis
Héron B, Batzios S, Mengel E, Giugliani R, Patterson M, Gautschi M, Cornelisse P, Trokan L, Schwierin B, Rohrbach M.   +9 more
europepmc   +1 more source

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots. [PDF]

Biomolecules
Martineau T, Maranda B, Auray-Blais C.
europepmc   +1 more source

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease. [PDF]

Neurol Int
González-Sánchez M, Ramírez-Expósito MJ, Martínez-Martos JM.   +2 more
europepmc   +1 more source

Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis. [PDF]

Mol Syndromol
Gürbüz BB, Özalp Ö.
europepmc   +1 more source

GM1 gangliosidosis type I.

Indian pediatrics, 1990
N, Sathy, K M, Krishnamoorthy, A, Ravikumar   +2 more
openaire   +1 more source

Long-standing macular cherry red spot - A case series and review of literature.

Oman J Ophthalmol
Agarwal D, Temkar S, Shah A, Deb AK, Ramachandar H, Sahi AA.   +5 more
europepmc   +1 more source

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Hyperphosphatasemia in GM1 gangliosidosis

The Journal of Pediatrics, 1992
info:eu-repo/semantics ...
Denis, Robert, Wayemberg, Jean-Louis, Vermeulen, Martine, Gorus, Frans, Liebaers, Ingeborg, Vamos, Eszter   +5 more
openaire   +3 more sources

GM1-Gangliosidosis

Archives of Ophthalmology, 1971
THE PURPOSE of this paper is to present, for the first time, the ocular pathological manifestations of infantile or type 1 GM1-gangliosidosis (also known as generalized gangliosidosis). In addition, the clinical aspects of this disease will be discussed, since it has important ocular manifestations, but has received only one brief mention in the ...
J M, Emery, W R, Green, R G, Wyllie, R R, Howell   +3 more
openaire   +2 more sources

GM1 Gangliosidosis Type II

European Neurology, 1970
A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly nor skeletal X-ray changes. There is no ganglioside accumulation in the liver. These observations permit a clear distinction from the generalized GM1 gangliosidosis and agree with the division in 2 ...
C, Hooft, R F, Vlietinck, G, Dacremont, J A, Kint   +3 more
openaire   +2 more sources

GM1 gangliosidosis in shiba dogs

Veterinary Record, 2000
A six‐month‐old shiba dog with a one‐month history of progressive motor dysfunction showed clinical signs of a cerebellar disorder, including ataxia, dysmetria and intention tremor of the head. Histopathological and ultrastructural studies revealed distended neurons packed with membranous cytoplasmic bodies throughout the central nervous system.
O, Yamato, K, Ochiai, Y, Masuoka, E, Hayashida, M, Tajima, S, Omae, M, Iijima, T, Umemura, Y, Maede   +8 more
openaire   +2 more sources