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Artículos de revistas sobre el tema "Neuroacanthocytosi"

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Publicado: 11 de marzo de 2023

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1

Saiz Garcia, H., L. Montes Reula, A. Portilla Fernandez, V. Pereira Sanchez, N. Olmo Lopez, E. Mancha Heredero y A. S. Rosero Enriquez. "Neuroacanthocytosis syndromes and neuropsychiatry symptoms associated". European Psychiatry 41, S1 (abril de 2017): S702. http://dx.doi.org/10.1016/j.eurpsy.2017.01.1246.

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IntroductionNeuroacanthocytosis is an infrequent cause of both neurological and psychiatric manifestations, and acanthocytes, which are a special form of spiculated red blood cells. Clinically significant psychopathology, ranging from behavioural disturbance to frank psychiatric illness, has been reported to occur in up to 60% of ChAc patients.MethodsA review was conducted aiming to clarify the physiopathology of this illness and its clinical features in order to distinguish neuroacanthocytosis from other neurological or psychiatric diseases. The literature search was conducted in PubMed data reviewing articles dating between 2010 and 2016.Results– Neuroacanthocytosis autosomal recessive disorder associated with mutations or deletions in the VPS13A gene on chromosome 9q, which codes for the membrane protein chorein. Chorein is strongly expressed in the brain. Chorein loss particularly affects the basal ganglia, especially the caudate nucleus and putamen;– Dysexecutive syndromes, OCD, depression and possibly psychosis, which may precede the frank motor and cognitive impairment;– The most recently developed treatment for neuroacanthocytoses is the use of deep-brain stimulation (DBS), with stimulation of the globus pallidus internus.ConclusionsWhile conducting a neurological exam, secondary causes of psychosis have to be included in the differential diagnosis. It is important to notice the possible confusion between tardive dyskinesia and a primary movement disorder. It should be necessary to investigate all de novo movement disorders in psychotic patients in order to eliminate etiologies other than iatrogenic ones.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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2

Shah, J. R., D. P. Patkar y R. N. Kamat. "A Case of McLeod Phenotype of Neuroacanthocytosis Brain MR Features and Literature Review". Neuroradiology Journal 26, n.º 1 (febrero de 2013): 21–26. http://dx.doi.org/10.1177/197140091302600103.

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Huntington's disease and neuroacanthocytosis may present similar clinical and MRI features. It is important to differentiate these findings since treatment and prognosis vary vastly between them. The aim of this article is to familiarize radiologists with the differentiating features of Huntington's disease and various diseases comprising neuroacanthocytosis. A 40-year-old Indian man with extrapyramidal symptoms was referred for MRI. The clinical diagnosis was Huntington's disease, but there were a few atypical clinical features such as a history of biting the tongue, tics, marked hyporeflexia and lower limb muscle wasting. MR showed atrophy of the caudate nucleus and putamen with iron deposition in the basal ganglia, which can be seen in Huntington's disease and in neuroacanthocytosis. An increased blood acanthocyte level was subsequently confirmed. Further work-up revealed increased serum creatine phosphokinase levels, normal serum lipoprotein levels and depressed K cell antigen activity on serological studies, confirming the diagnosis of McLeod syndrome. McLeod syndrome is one of the distinct phenotypes of neuroacanthocytosis. Neuroacanthocytosis is a group of disorders with increased serum acanthocyte counts and neurological involvement. Various causes of neuroacanthocytosis are discussed. It is important to consider the possibility of neuroacanthocytosis when features typical of Huntington's disease are encountered on imaging.
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3

Zeman, Adam y Geoff Shenton. "Neuroacanthocytosis". Practical Neurology 4, n.º 5 (octubre de 2004): 298–301. http://dx.doi.org/10.1111/j.1474-7766.2004.00249.x.

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ROBINSON, DAVID, MICHAEL SMITH y R. REDDY. "Neuroacanthocytosis". American Journal of Psychiatry 161, n.º 9 (septiembre de 2004): 1716. http://dx.doi.org/10.1176/appi.ajp.161.9.1716.

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5

Danek, Adrian y Ruth H. Walker. "Neuroacanthocytosis". Current Opinion in Neurology 18, n.º 4 (agosto de 2005): 386–92. http://dx.doi.org/10.1097/01.wco.0000173464.01888.e9.

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Chowdhury, Fateha, Rani Saward y Wendy N. Erber. "Neuroacanthocytosis". British Journal of Haematology 131, n.º 3 (noviembre de 2005): 285. http://dx.doi.org/10.1111/j.1365-2141.2005.05644.x.

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7

Danek, Adrian, Benedikt Bader y Ruth H. Walker. "Neuroacanthocytosis". Clinics 63, n.º 1 (2008): 135. http://dx.doi.org/10.1590/s1807-59322008000100021.

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8

Jung, Hans H., Adrian Danek y Ruth H. Walker. "Neuroacanthocytosis Syndromes". Orphanet Journal of Rare Diseases 6, n.º 1 (2011): 68. http://dx.doi.org/10.1186/1750-1172-6-68.

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9

Bohlega, S., W. Riley, J. Powe, R. Baynton y G. Roberts. "Neuroacanthocytosis and aprebetalipoproteinemia". Neurology 50, n.º 6 (1 de junio de 1998): 1912–14. http://dx.doi.org/10.1212/wnl.50.6.1912.

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10

Peppard, R. F., C. S. Lu, Nai-Shin Chu, P. Teal, W. R. W. Martin y D. B. Calne. "Parkinsonism with Neuroacanthocytosis". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 17, n.º 3 (agosto de 1990): 298–301. http://dx.doi.org/10.1017/s0317167100030602.

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ABSTRACT:Two patients with neuroacanthocytosis are described. One presented with parkinsonism and the other resembled diurnal dystonia of the Segawa type. Both patients responded well to dopaminomimetic therapy. A PET scan with fluorodopa revealed a nigrostriatal deficit in the first patient.
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11

Boughammoura-Bouatay, A., M. Karmani, S. Chebel y M. Frih-Ayed. "Neuroacanthocytose et épilepsie". La Revue de Médecine Interne 26, n.º 9 (septiembre de 2005): 756–58. http://dx.doi.org/10.1016/j.revmed.2005.04.032.

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12

Rinne, J. O., S. E. Daniel, F. Scaravilli, A. E. Harding y C. D. Marsden. "Nigral degeneration in neuroacanthocytosis". Neurology 44, n.º 9 (1 de septiembre de 1994): 1629. http://dx.doi.org/10.1212/wnl.44.9.1629.

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13

Walker, Ruth H. "Management of Neuroacanthocytosis Syndromes". Tremor and Other Hyperkinetic Movements 5 (19 de octubre de 2015): 346. http://dx.doi.org/10.5334/tohm.274.

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14

Balhara, Yatan Pal Singh, Sunny T. Varghese y Mridula Kayal. "Neuroacanthocytosis: Presenting With Depression". Journal of Neuropsychiatry and Clinical Neurosciences 18, n.º 3 (julio de 2006): 426. http://dx.doi.org/10.1176/jnp.2006.18.3.426.

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15

Temprano-Fernández, M. T., J. M. Asensi-Álvarez, M. V. Álvarez-Martínez y C. Buesa-García. "Neuroacanthocytosis: A new mutation". Neurología (English Edition) 32, n.º 3 (abril de 2017): 197–99. http://dx.doi.org/10.1016/j.nrleng.2015.06.014.

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16

Surisetti, B. K., K. Neeraja, S. Prasad, V. Holla, N. Kamble, R. Yadav y P. Pal. "Neuroacanthocytosis: Beyond movement disorders". Parkinsonism & Related Disorders 79 (octubre de 2020): e108. http://dx.doi.org/10.1016/j.parkreldis.2020.06.391.

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17

Danek, A., B. Bader y R. H. Walker. "Antisocial behaviour and neuroacanthocytosis". International Journal of Clinical Practice 61, n.º 8 (10 de julio de 2007): 1419. http://dx.doi.org/10.1111/j.1742-1241.2007.01371.x.

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18

Kazis, Aristidis, Vasilios Kimiskidis, Georgios Georgiadis y Ekaterini Voloudaki. "Neuroacanthocytosis presenting with epilepsy". Journal of Neurology 242, n.º 6 (1995): 415–17. http://dx.doi.org/10.1007/bf00868399.

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19

Hori, A., S. Kazukawa, I. Nakamura y M. Endo. "Electroencephalographic findings in neuroacanthocytosis". Electroencephalography and Clinical Neurophysiology 61, n.º 5 (noviembre de 1985): 342–48. http://dx.doi.org/10.1016/0013-4694(85)91024-7.

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20

Sharma, C., K. Nath, M. Acharya, B. L. Kumawat, D. Khandelwal y D. Jain. "Cerebellar atrophy in neuroacanthocytosis". Case Reports 2014, jun06 1 (6 de junio de 2014): bcr2014205232. http://dx.doi.org/10.1136/bcr-2014-205232.

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21

Bostantjopoulou, S., Z. Katsarou, A. Kazis y C. Vadikolia. "Neuroacanthocytosis presenting as Parkinsonism". Movement Disorders 15, n.º 6 (noviembre de 2000): 1271–73. http://dx.doi.org/10.1002/1531-8257(200011)15:6<1271::aid-mds1037>3.0.co;2-t.

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22

de Yebenes, J. G., M. F. Brin, M. A. Mena, C. De Felipe, R. M. del Rio, E. Bazan, A. Martinez et al. "Neurochemical findings in neuroacanthocytosis". Movement Disorders 3, n.º 4 (1988): 300–312. http://dx.doi.org/10.1002/mds.870030404.

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23

Sibon, Igor, Imad Ghorayeb, Pierre Arné y François Tison. "Distressing belching and neuroacanthocytosis". Movement Disorders 19, n.º 7 (17 de marzo de 2004): 856–59. http://dx.doi.org/10.1002/mds.20091.

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24

Zhu, Hui, Xue-min Feng, Teng Zhao y Jing-yao Liu. "Neuroacanthocytosis with unusual clinical features". Medicine 98, n.º 2 (enero de 2019): e14050. http://dx.doi.org/10.1097/md.0000000000014050.

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25

Bruneau, Marie-Andrée, Paul Lespérance y Sylvain Chouinard. "Schizophrenia-Like Presentation of Neuroacanthocytosis". Journal of Neuropsychiatry and Clinical Neurosciences 15, n.º 3 (agosto de 2003): 378–80. http://dx.doi.org/10.1176/jnp.15.3.378.

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26

Reid, Marion E. "McLeod neuroacanthocytosis: Genotype and phenotype". Transfusion Medicine Reviews 16, n.º 3 (julio de 2002): 268. http://dx.doi.org/10.1016/s0887-7963(02)80074-8.

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27

Walterfang, Mark, Andrew Evans, Jeffrey Chee Leong Looi, Hans H. Jung, Adrian Danek, Ruth H. Walker y Dennis Velakoulis. "The neuropsychiatry of neuroacanthocytosis syndromes". Neuroscience & Biobehavioral Reviews 35, n.º 5 (abril de 2011): 1275–83. http://dx.doi.org/10.1016/j.neubiorev.2011.01.001.

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28

Rinne, J. O., S. E. Daniel, F. Scaravilli, M. Pires, A. E. Harding y C. D. Marsden. "The neuropathological features of neuroacanthocytosis". Movement Disorders 9, n.º 3 (1994): 297–304. http://dx.doi.org/10.1002/mds.870090303.

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29

Danek, Adrian, Justin P. Rubio, Luca Rampoldi, Mengfatt Ho, Carol Dobson-Stone, Fran�ois Tison, William A. Symmans et al. "McLeod neuroacanthocytosis: Genotype and phenotype". Annals of Neurology 50, n.º 6 (diciembre de 2001): 755–64. http://dx.doi.org/10.1002/ana.10035.

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30

Okamoto, Kouichirou, Jusuke Ito, Tetsuya Furusawa, Kunio Sakai, Susumu Tokiguchi, Atsushi Homma, Ryoko Koike y Shoji Tsuji. "CT and MR Findings of Neuroacanthocytosis". Journal of Computer Assisted Tomography 21, n.º 2 (marzo de 1997): 221. http://dx.doi.org/10.1097/00004728-199703000-00010.

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31

Hadzsiev, Kinga, Mónika Szőts, Anett Fekete, László Balikó, Kim Boycott, Ferenc Nagy y Béla Melegh. "Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással". Orvosi Hetilap 158, n.º 42 (octubre de 2017): 1681–84. http://dx.doi.org/10.1556/650.2017.30880.

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Abstract: In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the position 1301. This change is a known pathogenic mutation. The aim of this article is to draw attention on the importance of the WES in the diagnosis of rare neurological diseases without any specific symptoms. Orv Hetil. 2017; 158(42): 1681–1684.
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32

Dubinsky, R. M., M. Hallett, R. Levey y G. D. Chiro. "Regional brain glucose metabolism in neuroacanthocytosis". Neurology 39, n.º 9 (1 de septiembre de 1989): 1253. http://dx.doi.org/10.1212/wnl.39.9.1253.

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33

Tschopp, Lorena, Gabriela Raina, Zulema Salazar y Federico Micheli. "Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias". Parkinsonism & Related Disorders 14, n.º 5 (julio de 2008): 440–42. http://dx.doi.org/10.1016/j.parkreldis.2007.10.006.

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34

Shang, H. "3.9.3 HUNTINGTON'S DISEASE AND NEUROACANTHOCYTOSIS SYNDROMES". Parkinsonism & Related Disorders 18 (enero de 2012): S165. http://dx.doi.org/10.1016/s1353-8020(11)70716-7.

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35

Bouguila, Hajer, Rafik Machraoui, Betbout Imen y Younes Samia. "Neuroacanthocytose : à propos de trois cas". Revue Neurologique 176 (septiembre de 2020): S101. http://dx.doi.org/10.1016/j.neurol.2020.01.288.

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36

Abdelmajid, Y., N. Altalai y M. Atnasous. "Neuroacanthocytosis, a rare and challenging diagnosis". Journal of the Neurological Sciences 405 (octubre de 2019): 230. http://dx.doi.org/10.1016/j.jns.2019.10.1235.

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37

Kontoleon, P. E., I. Ilias, A. Matsouka, S. Gatzonis, C. Spiropoulou y P. D. Papapetrou. "Impaired hypothalamic endocrine function in neuroacanthocytosis". Journal of Clinical Neuroscience 10, n.º 6 (noviembre de 2003): 701–3. http://dx.doi.org/10.1016/s0967-5868(03)00166-8.

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38

Delecluse, F., J. Deleval, J. M. Gerard, A. Michotte y D. Z. de Beyl. "Frontal Impairment and Hypoperfusion in Neuroacanthocytosis". Archives of Neurology 48, n.º 2 (1 de febrero de 1991): 232–34. http://dx.doi.org/10.1001/archneur.1991.00530140130031.

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39

Gültekin, Murat. "Clinical spectrum in neuroacanthocytosis: Two case reports". Journal of Parkinson’s Disease and Movement Disorders 22, n.º 1-2 (16 de marzo de 2020): 13–18. http://dx.doi.org/10.5606/phhb.dergisi.2019.002.

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40

Kushwaha, Suman, Akhila Panda, Vachan Mehta, Seema Malik y Ishita Pant. "Feeding dystonia: A classical presentation of neuroacanthocytosis". International Journal of Case Reports and Images 4, n.º 1 (2013): 37. http://dx.doi.org/10.5348/ijcri-2013-01-255-cr-9.

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41

Zagidullina, K. L. y N. A. Popova. "Acute debut of neuroacanthocytosis in clinical practice". Kazan medical journal 97, n.º 6 (15 de diciembre de 2016): 971–73. http://dx.doi.org/10.17750/kmj2016-971.

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Neuroacanthocytosis is a rare autosomal dominant disease, which in its clinical manifestation is characterized by choreiform hyperkinesis, mental and cognitive disorders, signs of polyneuropathy and cardiomyopathy, and the basis of the disease is presence of modified erythrocytes (acanthocytes) in peripheral blood. The disease is characterized by autosomal dominant type of inheritance (the gene was mapped on chromosome 9q21), sporadic cases are possible. Description of a clinical case of a 63-year old patient with neuroacanthocytosis delivered by an ambulance with a preliminary diagnosis of stroke is provided. The patient complained of severe general fatigue, whole body shivering, and involuntary compulsive uncontrollable movements in the limbs, body, and face. The patient noted changes in her voice, probably due to compulsive movements of her tongue, lightheadedness, and shaky walk. Almost all physical and laboratory findings were within normal. Taking into account acuteness of the disease, its attack at the time of hypertensive emergency and patient’s age, circular cause was suggested, computed tomography of the brain and magnetic resonance imaging were performed. The results of neuroimaging ruled out the pathology of cerebral circulation. Ultrasound of neck vessels revealed nothing abnormal. Purposeful repeated blood analysis revealed that 85% of erythrocytes were acanthocytes and after that the correct diagnosis was made. The peculiarities of this clinical case are acute manifestation of symptoms and relatively late debut of the disease.
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42

Azman, Filiz, Murat Cabalar, Nejla Sozer Topcular, Arsida Bajrami y Vildan Yayla. "A Case of Neuroacanthocytosis with Cerebellar Syndrome". Istanbul Medical Journal 16, n.º 3 (8 de octubre de 2015): 127–29. http://dx.doi.org/10.5152/imj.2015.76598.

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43

Danek, A. "2.3.4 NEUROACANTHOCYTOSIS SYNDROMES AND OTHER HD-PHENOCOPIES". Parkinsonism & Related Disorders 18 (enero de 2012): S83. http://dx.doi.org/10.1016/s1353-8020(11)70398-4.

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44

Witte, Thomas N., Adrian Danek, Michael Reiter, Marcell U. Heim, Josef Dirschinger y Eckardt G. J. Olsen. "McLeod syndrome: a distinct form of neuroacanthocytosis". Journal of Neurology 239, n.º 6 (1992): 302–6. http://dx.doi.org/10.1007/bf00867584.

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45

Ghariani Fetoui, N., A. Aounallah, L. Boussofara, M. Gharmoul, R. Mesfar, A. Hassine, M. Ben Kahla et al. "Automorsure et neuroacanthocytose : A propos d’un cas". La Revue de Médecine Interne 40 (junio de 2019): A208—A209. http://dx.doi.org/10.1016/j.revmed.2019.03.300.

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46

Trujillo, O., L. Lay-Son, O. Loureiro, J. San Martin Varela, P. Lillo y D. Saez. "Mc Leod neuroacanthocytosis syndrome: a case report". Journal of the Neurological Sciences 357 (octubre de 2015): e291. http://dx.doi.org/10.1016/j.jns.2015.08.1013.

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47

Nabli, N., A. Aounallah, N. Ghariani Fetoui, S. Idoudi, R. Gammoudi, S. Mokni, M. Belkahla, C. Belajouza, L. Boussofara y M. Denguezli. "La neuroacanthocytose: une cause de chéilite chronique". Annales de Dermatologie et de Vénéréologie 146, n.º 12 (diciembre de 2019): A292. http://dx.doi.org/10.1016/j.annder.2019.09.479.

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48

Sakai, T., H. Iwashita y M. Kakugawa. "Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome)". Neurology 35, n.º 11 (1 de noviembre de 1985): 1679. http://dx.doi.org/10.1212/wnl.35.11.1679.

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49

Jankovic, J., J. M. Killian y M. C. Spitz. "Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome)". Neurology 35, n.º 11 (1 de noviembre de 1985): 1679. http://dx.doi.org/10.1212/wnl.35.11.1679-a.

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50

Lakhan, Shaheen E. y Kenneth Gross. "Progressive neuroacanthocytosis in brothers: a case report". Clinics 62, n.º 5 (2007): 665–68. http://dx.doi.org/10.1590/s1807-59322007000500025.

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