Search Results: Orphanet

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Natrium benzoat
Jumat, 2025-12-19 13:55:59

guidelines for the diagnosis and management of urea cycle disorders". Orphanet journal of rare diseases. 7: 32. doi:10.1186/1750-1172-7-32. PMC 3488504...

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Sindrom Ehlers–Danlos
Sabtu, 2026-02-21 22:39:17

Ehlers-Danlos syndrome patients: natural history and nosological perspectives". Orphanet Journal of Rare Diseases. 15 (1): 197. doi:10.1186/s13023-020-01470-0....

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Koproporfiria herediter
Jumat, 2025-11-14 13:49:30

Washington, Seattle. PMID 23236641. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Hereditary coproporphyria". www.orpha.net (dalam bahasa Inggris). Diakses...

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Tenoksikam
Kamis, 2025-11-13 18:13:12

(December 2010). "Toxic epidermal necrolysis and Stevens-Johnson syndrome". Orphanet Journal of Rare Diseases. 5 (1): 39. doi:10.1186/1750-1172-5-39. PMC 3018455...

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Amoksisilin/asam klavulanat
Minggu, 2026-05-31 23:53:22

LE (2010). "Toxic epidermal necrolysis and Stevens-Johnson syndrome". Orphanet Journal of Rare Diseases. 5: 39. doi:10.1186/1750-1172-5-39. PMC 3018455...

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Penyakit genetik
Minggu, 2025-09-14 23:46:42

"OMIM Gene Map Statistics". www.omim.org. Diakses tanggal 2020-01-14. "Orphanet: About rare diseases". www.orpha.net (dalam bahasa Inggris). Diakses tanggal...

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Xeroderma pigmentosum
Kamis, 2024-11-21 19:27:14

AR, McGibbon D, Stefanini M (November 2011). "Xeroderma pigmentosum". Orphanet Journal of Rare Diseases. 6: 70. doi:10.1186/1750-1172-6-70. PMC 3221642...

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Sindrom Klinefelter
Jumat, 2025-11-14 16:24:43

(2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840...

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Sindrom tangisan kucing
Minggu, 2023-05-21 11:20:59

2010-05-25. (Inggris) Mainardi, PC (Oct 2003). "Cri du chat Syndrome" (PDF). Orphanet encyclopedia. Diarsipkan dari asli (pdf) tanggal 2010-04-01. Diakses tanggal...

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Sindrom Tiga X
Rabu, 2024-01-24 18:44:15

Wilson, R; Wilson, L (11 May 2010). "A review of trisomy X (47,XXX)". Orphanet Journal of Rare Diseases. 5: 8. doi:10.1186/1750-1172-5-8. PMC 2883963...

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Asam metilmalonat
Jumat, 2025-06-06 23:16:09

the diagnosis and management of methylmalonic and propionic acidemia". Orphanet Journal of Rare Diseases (dalam bahasa Inggris). 9 (1). doi:10.1186/s13023-014-0130-8...

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Moncef Slaoui
Kamis, 2025-11-27 13:44:16

European Union through adaptive approaches: features and perspectives". Orphanet Journal of Rare Diseases. 9 (1): 20. doi:10.1186/1750-1172-9-20. PMC 3923002...

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Asosiasi VACTERL
Senin, 2026-04-20 16:32:10

PMID 8826430. Solomon, BD (Aug 16, 2011). "VACTERL/VATER Association". Orphanet Journal of Rare Diseases. 6: 56. doi:10.1186/1750-1172-6-56. PMC 3169446...

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Osteokondroma
Minggu, 2025-09-14 23:11:08

effects of EXT2 on mesenchymal differentiation– lessons from the zebrafish". Orphanet Journal of Rare Diseases. 9 (35): 35. doi:10.1186/1750-1172-9-35. PMC 4004154...

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Pre-eklampsia
Sabtu, 2025-11-22 02:40:12

4–642.7 OMIM: 189800 MeSH: D011225 DiseasesDB: 10494 SNOMED CT: 398254007 Sumber luar MedlinePlus: 000898 eMedicine: med/1905 ped/1885 Orphanet: 275555...

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Erupsi obat
Kamis, 2025-10-16 13:20:41

syndrome--a comprehensive review of an acute febrile neutrophilic dermatosis". Orphanet J Rare Dis. 2: 34. doi:10.1186/1750-1172-2-34. PMC 1963326. PMID 17655751...

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Sindrom okuloserebrorenal
Sabtu, 2025-10-18 01:28:34

Diakses tanggal 21 December 2016. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Diakses tanggal 21...

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Sindrom 49, XXXXY
Senin, 2026-06-01 07:31:37

(2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet J Rare Dis. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147...

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Sindrom Birt–Hogg–Dubé
Selasa, 2025-12-09 20:26:33

"Birt-Hogg-Dubé syndrome (Disease definition)" (dalam bahasa Inggris). Orphanet. Diakses tanggal 3 Februari 2020. Andrews 2011. Palmirotta et al. 2010...

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Rabdomiolisis
Senin, 2025-11-17 23:04:40

Heinz; Quinlivan, Ros (2015-12). "Rhabdomyolysis: a genetic perspective". Orphanet Journal of Rare Diseases (dalam bahasa Inggris). 10 (1): 51. doi:10...

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Rabies
Jumat, 2026-05-29 21:44:35

ICD-10: A82 ICD-9-CM: 071 MeSH: D011818 DiseasesDB: 11148 Sumber luar MedlinePlus: 001334 eMedicine: med/1374 Patient UK: Rabies GARD: 7516 Orphanet: 770...

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Hipotesis otak tercetak
Rabu, 2025-12-03 12:28:06

Sutherland A, Wilson R, Wilson L (Mei 2010). "A review of trisomy X (47,XXX)". Orphanet Journal of Rare Diseases. 5 (8): 8. doi:10.1186/1750-1172-5-8. PMC 2883963...

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Panbronkiolitis difus
Senin, 2025-05-19 17:35:06

Klasifikasi D ICD-10: J21.9 ICD-9-CM: 466.1 OMIM: 604809 DiseasesDB: 3804 SNOMED CT: 430476004 Sumber luar Orphanet: 171700...

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Nekrolisis epidermal toksik
Rabu, 2026-03-04 10:39:47

tanggal 27 April 2017. Diakses tanggal 26 April 2017. "Orphanet: Toxic epidermal necrolysis". Orphanet (dalam bahasa Inggris). November 2008. Diarsipkan dari...

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Imigluserase
Sabtu, 2025-11-08 12:14:23

(20): 1917–1919. doi:10.1056/NEJMp0908496. PMID 19828525. "Imiglucerase". Orphanet. Diakses tanggal 26 April 2022. Ailworth E, Weisman R (June 17, 2009)....

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Sindrom Al-Gazali-Donnai-Mueller
Selasa, 2025-06-03 16:12:59

Inggris). Diakses tanggal 2022-05-20. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Al Gazali Donnai Mueller Syndrom". www.orpha.net (dalam bahasa Inggris)...

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Penyakit urin sirup mapel
Rabu, 2023-02-15 01:09:21

DiseasesDB: 7820 Sumber luar MedlinePlus: 000373 eMedicine: ped/1368 Patient UK: Penyakit urin sirup mapel GeneReviews: Maple Syrup Urine Disease Orphanet: 511...

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Chikungunya
Minggu, 2026-02-15 20:43:12

Klasifikasi D ICD-10: A92.0 ICD-9-CM: 065.4, 066.3 MeSH: D018354 DiseasesDB: 32213 Sumber luar eMedicine: article/2225687 Orphanet: 324625...

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Tromboangitis obliterans
Senin, 2026-06-01 09:40:58

Singapore: Talisman Publishing. ISBN 9789810873646. Arkkila, PE, (2006), Thromboangiitis obliterans (Buerger's disease), Orphanet Journal of Rare Diseases...

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Sindrom Riley-Day
Rabu, 2025-10-22 07:27:31

"Hereditary sensory and autonomic neuropathies: types II, III, and IV". Orphanet Journal of Rare Diseases. 2 (39): 39. doi:10.1186/1750-1172-2-39. PMC 2098750...

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Seramida
Sabtu, 2025-10-18 00:32:00

neurological symptoms in combined malonic and methylmalonic aciduria". Orphanet Journal of Rare Diseases. 15 (1): 27. doi:10.1186/s13023-020-1299-7. ISSN 1750-1172...

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Baklofen
Jumat, 2026-02-13 21:39:56

sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A". Orphanet Journal of Rare Diseases. 9 (1): 199. doi:10.1186/s13023-014-0199-0. PMC 4311411...

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Fibrodysplasia ossificans progressiva
Sabtu, 2026-06-06 07:55:03

fibrodysplasia ossificans progressiva: an open-labeled clinical trial". Orphanet Journal of Rare Diseases. 8 (1): 163. doi:10.1186/1750-1172-8-163. PMC 4015865...

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Anagrelida
Rabu, 2025-04-23 12:59:49

S2CID 26257327. Brière JB (January 2007). "Essential thrombocythemia". Orphanet Journal of Rare Diseases. 2 (1): 3. doi:10.1186/1750-1172-2-3. PMC 1781427...

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Mukormikosis
Rabu, 2026-03-04 10:37:10

pada kucing, anjing, sapi, kuda, lumba-lumba, bison, dan anjing laut. "Orphanet: Zygomycosis". www.orpha.net (dalam bahasa Inggris). Diarsipkan dari asli...

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Sindrom Empat X
Minggu, 2025-09-14 23:40:45

Rebecca; Wilson, Lennie (11 May 2010). "A review of trisomy X (47, XXX)". Orphanet Journal of Rare Diseases. 5 (8). doi:10.1186/1750-1172-5-8. PMC 2883963...

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Kanker paru-paru
Minggu, 2026-05-10 06:23:47

PMID 21351269. Honnorat, J (May 2007). "Paraneoplastic neurological syndromes". Orphanet Journal of Rare Diseases. 2 (1). BioMed Central: 22. doi:10.1186/1750-1172-2-22...

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Sindrom Pfeiffer
Kamis, 2025-09-18 16:13:18

tidak diketahui (link) Vogels A, Fryns JP (2006). "Pfeiffer syndrome". Orphanet J Rare Dis. 1: 19. doi:10.1186/1750-1172-1-19. PMC 1482682. PMID 16740155...

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Sindrom Edwards
Rabu, 2025-12-31 06:27:46

aslinya tanggal 4 June 2020. Diakses tanggal 8 August 2020. "Trisomy 18". Orphanet. May 2008. Diarsipkan dari versi aslinya tanggal 3 October 2016. Diakses...

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Tolkapon
Senin, 2026-02-16 22:14:14

"SOM0226, a repositioned compound for the treatment of TTR amyloidosis". Orphanet J Rare Dis. 10 (Suppl 1): P9. doi:10.1186/1750-1172-10-s1-p9. PMC 4642128...

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Hipertensi paru
Jumat, 2026-05-29 14:04:08

Diarsipkan dari asli tanggal 2020-09-21. Diakses tanggal 19 Februari 2020. "Orphanet: Pulmonary arterial hypertension". www.orpha.net. Diarsipkan dari asli...

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