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The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Lang FM, Korner P, Harnett M, Karunakara A, Tifft CJ. Lang FM, et al. Mol Genet Metab. 2020 Mar;129(3):228-235. doi: 10.1016/j.ymgme.2019.12.012. Epub 2019 Dec 30. Mol Genet Metab. 2020. PMID: 31937438 Free PMC article. Review.
In this dataset, average age of diagnosis was 8.7 months, and average age of death was 18.9 months. DISCUSSION: This analysis demonstrates the predictable clinical course of this disease, as almost all patients experienced significant multi-organ system dysfunction and neu …
In this dataset, average age of diagnosis was 8.7 months, and average age of death was 18.9 months. DISCUSSION: This analysis demonstrates t …
The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction.
van der Voorn JP, Kamphorst W, van der Knaap MS, Powers JM. van der Voorn JP, et al. Acta Neuropathol. 2004 Jun;107(6):539-45. doi: 10.1007/s00401-004-0848-9. Epub 2004 Mar 20. Acta Neuropathol. 2004. PMID: 15042387
A myelin deficit in the cerebral white matter in infantile GM1 gangliosidosis is well established. Some have proposed this deficit to be secondary to axonal loss, while others argue for delayed or arrested myelination. ...Amyloid precursor protein (APP)-immun …
A myelin deficit in the cerebral white matter in infantile GM1 gangliosidosis is well established. Some have proposed t …
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. Caciotti A, et al. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. Biochim Biophys Acta. 2011. PMID: 21497194 Free PMC article.
One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino a …
One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infant …
Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency.
Kobayashi T, Shinnoh N, Kuroiwa Y. Kobayashi T, et al. Biochim Biophys Acta. 1986 Jan 3;875(1):115-21. Biochim Biophys Acta. 1986. PMID: 3079639
The hydrolysis rates of GA1 were 80-86% of normal on the 3rd day after loading, while GM1 was hydrolyzed slowly; 35-54% on the 14th day. In infantile GM1 gangliosidosis and I-cell disease, little GM1 and GA1 was hydrolyzed on any day of culture, while fibrobl …
The hydrolysis rates of GA1 were 80-86% of normal on the 3rd day after loading, while GM1 was hydrolyzed slowly; 35-54% on the 14th day. In …
Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.
Vedak P, Sells R, De Souza A, Hoang MP, Kroshinsky D. Vedak P, et al. Pediatr Dermatol. 2015 Nov-Dec;32(6):e294-5. doi: 10.1111/pde.12666. Epub 2015 Sep 4. Pediatr Dermatol. 2015. PMID: 26337817
Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue-grey hyperpigmentation commonly observed in the lumbosacral region of infants. Generally resolving by childhood, it is traditionally considered a benign condition, but it may be a sign of underly …
Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue-grey hyperpigmentation commonly observed in the lumbosa …
Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.
Mancini GM, Hoogeveen AT, Galjaard H, Mansson JE, Svennerholm L. Mancini GM, et al. Hum Genet. 1986 May;73(1):35-8. doi: 10.1007/BF00292661. Hum Genet. 1986. PMID: 3086209
A total inability to metabolize the ingested substrate was found in infantile GM1-gangliosidosis whereas cells from an adult GM1-gangliosidosis variant showed a slower rate of degradation, compared with controls. ...Unexpectedly, in these cells an impaired me …
A total inability to metabolize the ingested substrate was found in infantile GM1-gangliosidosis whereas cells from an …
Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis.
Denis R, Wayenberg JL, Vermeulen M, Gorus F, Gerlo E, Lissens W, Liebaers I, Jauniaux E, Vamos E. Denis R, et al. Acta Clin Belg. 1996;51(5):320-7. doi: 10.1080/22953337.1996.11718526. Acta Clin Belg. 1996. PMID: 8950839
At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase levels were repeatedly noticed. ...In the present case, the postnatal diagnosis was made in view of the placental pathologic findings. Our observ …
At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase levels w …
Manifestation of infantile GM1 gangliosidosis in the fetal eye. An electron microscopic study.
Schmitt-Gräff A. Schmitt-Gräff A. Graefes Arch Clin Exp Ophthalmol. 1988;226(1):84-8. doi: 10.1007/BF02172724. Graefes Arch Clin Exp Ophthalmol. 1988. PMID: 3125087
Ultrastructural studies of the eyes from two fetuses affected with GM1 gangliosidosis were performed in an effort to assess tissue-specific distribution of storage inclusions in the different ocular components derived from neuroectoderm, surface ectoderm, and mesoderm. Two major …
Ultrastructural studies of the eyes from two fetuses affected with GM1 gangliosidosis were performed in an effort to assess tissue-specific …