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Neuronal ceroid lipofuscinosis infantile Finnish type

MedGen UID:
444114
Concept ID:
C2931673
Disease or Syndrome
Synonyms: Ceroid lipofuscinosis, neuronal 1, infantile; Infantile neuronal ceroid lipofuscinosis (INCL); Neuronal ceroid lipofuscinosis, infantile Finnish type; Santavuori disease
SNOMED CT: Neuronal ceroid lipofuscinosis infantile Finnish type (58258004); Santavuori disease (58258004); Neuronal ceroid lipofuscinosis, infantile Finnish type (58258004)
 
OMIM®: 256730

Recent clinical studies

Etiology

Li W, Fan X, Zhang Y, Huang L, Jiang T, Qin Z, Su J, Luo J, Yi S, Zhang S, Shen Y
BMC Med Genet 2020 May 11;21(1):100. doi: 10.1186/s12881-020-01039-5. PMID: 32393339Free PMC Article
Jules F, Sauvageau E, Dumaresq-Doiron K, Mazzaferri J, Haug-Kröper M, Fluhrer R, Costantino S, Lefrancois S
Exp Cell Res 2017 Aug 1;357(1):40-50. Epub 2017 Apr 22 doi: 10.1016/j.yexcr.2017.04.024. PMID: 28442266
Mamo A, Jules F, Dumaresq-Doiron K, Costantino S, Lefrancois S
Mol Cell Biol 2012 May;32(10):1855-66. Epub 2012 Mar 19 doi: 10.1128/MCB.06726-11. PMID: 22431521Free PMC Article
Isosomppi J, Vesa J, Jalanko A, Peltonen L
Hum Mol Genet 2002 Apr 15;11(8):885-91. doi: 10.1093/hmg/11.8.885. PMID: 11971870
Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

Diagnosis

Vesa J, Peltonen L
Curr Mol Med 2002 Aug;2(5):439-44. doi: 10.2174/1566524023362311. PMID: 12125809
Santavuori P, Vanhanen SL, Autti T
Eur J Paediatr Neurol 2001;5 Suppl A:157-61. doi: 10.1053/ejpn.2000.0454. PMID: 11588989
Romppanen EL, Valtonen P, Mononen T, Mononen I
Clin Chem 1998 Nov;44(11):2373-6. PMID: 9799772
Elleder M, Franc J, Kraus J, Nevsímalová S, Sixtová K, Zeman J
Eur J Paediatr Neurol 1997;1(4):109-14. doi: 10.1016/s1090-3798(97)80041-4. PMID: 10728204
Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

Therapy

Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R
Genomics 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. PMID: 1672288
Westermarck T
Acta Pharmacol Toxicol (Copenh) 1977 Aug;41(2):121-8. doi: 10.1111/j.1600-0773.1977.tb02132.x. PMID: 579051

Prognosis

Isosomppi J, Vesa J, Jalanko A, Peltonen L
Hum Mol Genet 2002 Apr 15;11(8):885-91. doi: 10.1093/hmg/11.8.885. PMID: 11971870
Ranta S, Savukoski M, Santavuori P, Haltia M
Adv Genet 2001;45:123-40. doi: 10.1016/s0065-2660(01)45007-3. PMID: 11332769
Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R
Genomics 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. PMID: 1672288

Clinical prediction guides

Vesa J, Peltonen L
Curr Mol Med 2002 Aug;2(5):439-44. doi: 10.2174/1566524023362311. PMID: 12125809
Isosomppi J, Vesa J, Jalanko A, Peltonen L
Hum Mol Genet 2002 Apr 15;11(8):885-91. doi: 10.1093/hmg/11.8.885. PMID: 11971870
Ranta S, Savukoski M, Santavuori P, Haltia M
Adv Genet 2001;45:123-40. doi: 10.1016/s0065-2660(01)45007-3. PMID: 11332769
Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R
Genomics 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. PMID: 1672288
Westermarck T
Acta Pharmacol Toxicol (Copenh) 1977 Aug;41(2):121-8. doi: 10.1111/j.1600-0773.1977.tb02132.x. PMID: 579051

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