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Items: 1 to 20 of 134


Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.

Li H, Liu L, Li Y, He S, Liu Y, Li J, Tao R, Li W, Shang S.

Medicine (Baltimore). 2018 Jul;97(27):e11405. doi: 10.1097/MD.0000000000011405.


Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report.

Zhao Z, Chu CC, Chang MY, Chang HT, Hsu YL.

Medicine (Baltimore). 2018 Jun;97(25):e11162. doi: 10.1097/MD.0000000000011162.


Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M.

Pan Afr Med J. 2018 Jan 25;29:75. doi: 10.11604/pamj.2018.29.75.12353. eCollection 2018. Review.


When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.

Portaro S, Gugliandolo A, Scionti D, Cammaroto S, Morabito R, Leonardi S, Fraggetta F, Bramanti P, Mazzon E.

Medicine (Baltimore). 2018 Jun;97(22):e10953. doi: 10.1097/MD.0000000000010953.


A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.

Wang J, Zhu Q, Liu H.

Medicine (Baltimore). 2018 May;97(21):e10837. doi: 10.1097/MD.0000000000010837.


Burosumab Therapy in Children with X-Linked Hypophosphatemia.

Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA.

N Engl J Med. 2018 May 24;378(21):1987-1998. doi: 10.1056/NEJMoa1714641.


A case report of neurological complications owing to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain.

Bakhiet M, AlAwadi AMI, AlHammadi MM, Ali MF, Butti N.

Medicine (Baltimore). 2018 May;97(20):e10780. doi: 10.1097/MD.0000000000010780.


Anesthetic management of cesarean delivery for a parturient with Wilson's disease: A case report.

Wan Y, Jiang X, Lin X.

Medicine (Baltimore). 2018 May;97(20):e10454. doi: 10.1097/MD.0000000000010454.


Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, Koné-Paut I, Lachmann HJ, Ozen S, Simon A, Zeft A, Calvo Penades I, Moutschen M, Quartier P, Kasapcopur O, Shcherbina A, Hofer M, Hashkes PJ, Van der Hilst J, Hara R, Bujan-Rivas S, Constantin T, Gul A, Livneh A, Brogan P, Cattalini M, Obici L, Lheritier K, Speziale A, Junge G.

N Engl J Med. 2018 May 17;378(20):1908-1919. doi: 10.1056/NEJMoa1706314.


Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome: A literature review on this rare progeroid pathology.

Passarelli PC, Pasquantonio G, Manicone PF, Cerroni L, Condo' R, Mancini M, D'Addona A.

Medicine (Baltimore). 2018 May;97(18):e0656. doi: 10.1097/MD.0000000000010656. Review.


Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.

Gordon LB, Shappell H, Massaro J, D'Agostino RB Sr, Brazier J, Campbell SE, Kleinman ME, Kieran MW.

JAMA. 2018 Apr 24;319(16):1687-1695. doi: 10.1001/jama.2018.3264.


STARD-rapid screening for the 6 most common G6PD gene mutations in the Chinese population using the amplification refractory mutation system combined with melting curve analysis.

Fan Z, Weng X, Huang G, Pan Z, Long Z, Fan Q, Tang W, Fang L, Long J, Hu T, Huang Y, Sun L.

Medicine (Baltimore). 2018 Apr;97(17):e0426. doi: 10.1097/MD.0000000000010426.


Use of primaquine and glucose-6-phosphate dehydrogenase deficiency testing: Divergent policies and practices in malaria endemic countries.

Recht J, Ashley EA, White NJ.

PLoS Negl Trop Dis. 2018 Apr 19;12(4):e0006230. doi: 10.1371/journal.pntd.0006230. eCollection 2018 Apr. Review.


Turning the backbone into an ankylosed concrete-like structure: Case report.

Kaissi AA, Chehida FB, Grill F, Ganger R, Kircher SG.

Medicine (Baltimore). 2018 Apr;97(15):e0278. doi: 10.1097/MD.0000000000010278.


Inborn Errors of Metabolism in the Emergency Department (Undiagnosed and Management of the Known).

MacNeill EC, Walker CP.

Emerg Med Clin North Am. 2018 May;36(2):369-385. doi: 10.1016/j.emc.2017.12.014. Review.


Case 252: Acute Hyperammonemic Encephalopathy Resulting from Late-Onset Ornithine Transcarbamylase Deficiency.

Hershman M, Carmody R, Udayasankar UK.

Radiology. 2018 Apr;287(1):353-359. doi: 10.1148/radiol.2018161834.


Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, Gochuico BR.

PLoS One. 2018 Mar 16;13(3):e0194193. doi: 10.1371/journal.pone.0194193. eCollection 2018.


Case 7-2018: A 25-Year-Old Man with New-Onset Seizures.

Camargo EC, Huang SY, Karaa A, Rosenbaum MW.

N Engl J Med. 2018 Mar 8;378(10):941-948. doi: 10.1056/NEJMcpc1712226. No abstract available.


Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.

Cai X, Yu D, Xie Y, Zhou H.

Medicine (Baltimore). 2018 Feb;97(7):e9880. doi: 10.1097/MD.0000000000009880.

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