听力与言语-语言病理学

行为科学

医学伦理学

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  • Whole body hypothermia and oxidative stress in babies with hypoxic-ischemic brain injury.

    abstract::According to increasing evidence, hypothermia can significantly improve outcomes in term neonates manifesting asphyxic insult and hypoxic-ischemic encephalopathy. Oxidative stress plays a key role in hypoxic-ischemic and inflammatory brain injuries. We investigated the impact of hypothermia on oxidative stress in babi...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.pediatrneurol.2010.05.009

    authors: Perrone S,Szabó M,Bellieni CV,Longini M,Bangó M,Kelen D,Treszl A,Negro S,Tataranno ML,Buonocore G

    更新日期:2010-10-01 00:00:00

  • Isolated sympathetic failure with autoimmune autonomic ganglionopathy.

    abstract::A 16-year-old boy had a gradual onset of post-exercise myalgia with progressive fatigue and dizziness. He had bradycardia (37 beats/minute) with low supine and normal standing norepinephrine levels (56 and 311 pg/mL, respectively). He had absent sympathetically mediated vasoconstrictor responses during Valsalva maneuv...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.05.003

    authors: Fischer PR,Sandroni P,Pittock SJ,Porter CB,Lehwald LM,Raj SR

    更新日期:2010-10-01 00:00:00

  • Clinical manifestations in children with mitochondrial diseases.

    abstract::Mitochondrial diseases comprise a group of complex and heterogeneous genetic disorders. Variable clinical features present a major challenge in pediatric diagnoses. From January 1984-June 2009, 69 patients were diagnosed with either syndromic mitochondrial diseases or nonsyndromic mitochondrial diseases. Clinical mani...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.04.015

    authors: Chi CS,Lee HF,Tsai CR,Lee HJ,Chen LH

    更新日期:2010-09-01 00:00:00

  • Childhood chronic inflammatory demyelinating polyneuropathy with nonuniform pathologic features.

    abstract::Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.04.001

    authors: Luan X,Zheng R,Chen B,Yuan Y

    更新日期:2010-08-01 00:00:00

  • Pediatric Hirayama disease.

    abstract::We report on a 16-year-old girl with muscular atrophy of a distal upper extremity (Hirayama disease). The disease progressed insidiously, and during our first examination, she exhibited weakness and wasting in the right hand, accompanied by cold paresis. No sensory disturbance was evident. A nerve conduction test reve...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.03.015

    authors: Hosokawa T,Fujieda M,Wakiguchi H,Oosaki Y

    更新日期:2010-08-01 00:00:00

  • Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis.

    abstract::The goal of the study was to assess the long-term seizure and neuropsychologic outcomes of patients with tuberous sclerosis and refractory epilepsy who received vagus nerve stimulator implantation. Eleven patients with a follow-up period of at least 12 months were studied retrospectively. The mean age at the time of i...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.03.003

    authors: Zamponi N,Petrelli C,Passamonti C,Moavero R,Curatolo P

    更新日期:2010-07-01 00:00:00

  • Electroconvulsive therapy for catatonia in a boy with hydrocephalus and an arachnoid cyst.

    abstract::We report on the successful use of electroconvulsive therapy in a 13-year-old boy with congenital hydrocephalus, a history of multiple shunt revisions, and a stable prepontine arachnoid cyst, who experienced profound catatonic deterioration. After initial shunt placement at age 20 months, the patient had followed norm...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.03.011

    authors: Wachtel LE,Baranano K,Reti IM

    更新日期:2010-07-01 00:00:00

  • Efficacy of felbamate in the treatment of intractable pediatric epilepsy.

    abstract::The antiepileptic drug felbamate has demonstrated efficacy against a variety of seizure types in the pediatric population, particularly seizures associated with Lennox-Gastaut syndrome. Postmarketing experience, however, revealed serious idiosyncratic adverse effects not observed during clinical trials, including apla...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.02.013

    authors: Zupanc ML,Roell Werner R,Schwabe MS,O'Connor SE,Marcuccilli CJ,Hecox KE,Chico MS,Eggener KA

    更新日期:2010-06-01 00:00:00

  • Optic nerve tumor in tuberous sclerosis complex is not responsive to sirolimus.

    abstract::A 12-year-old girl with clinically established tuberous sclerosis complex, and without signs of neurofibromatosis type 1, developed a right retro-ocular optic nerve tumor. After rapid growth for 1 year after its discovery, the optic nerve tumor demonstrated modest progression. The patient received the mammalian target...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.01.016

    authors: Sparagana SP,Wilkes DC,Thompson CE,Bowers DC

    更新日期:2010-06-01 00:00:00

  • Marked improvement in Segawa syndrome after L-dopa and selegiline treatment.

    abstract::Three brothers, born to parents who were first cousins, were referred for progressive diffuse dystonia. Initial physical examinations revealed minor dysmorphic features, e.g., bifrontal narrowing, downslanting palpebral fissures, low-set ears, upturned nostrils, and microretrognathia, as well as neurodevelopmental del...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.01.008

    authors: Yosunkaya E,Karaca E,Basaran S,Seven M,Yüksel A

    更新日期:2010-05-01 00:00:00

  • Cryptococcosis in nonhuman immunodeficiency virus-infected children.

    abstract::Between 1991-2006, nine patients below age 18 years, with a microbiologic documentation of Cryptococcus neoformans infection and no evidence of human immunodeficiency virus infection, were identified and treated at Chang Gung Children's Hospital. All exhibited central nervous system involvement. Seven patients were fe...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.10.015

    authors: Huang KY,Huang YC,Hung IJ,Lin TY

    更新日期:2010-04-01 00:00:00

  • Cardiac arrhythmias and ictal events within an epilepsy monitoring unit.

    abstract::The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables wer...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.10.010

    authors: Standridge SM,Holland KD,Horn PS

    更新日期:2010-03-01 00:00:00

  • Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome.

    abstract::We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.09.012

    authors: Bindu PS,Taly AB,Sinha S,Bharath RD

    更新日期:2010-02-01 00:00:00

  • Clinical and imaging findings suggesting human herpesvirus 6 encephalitis.

    abstract::We sought to distinguish patients testing positive for human herpesvirus 6 from those testing negative, based on clinical features and magnetic resonance images. Sixteen immunosuppresed patients were tested by polymerase chain reaction for human herpes virus 6 DNA in cerebrospinal fluid (nine positive results). Medica...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.07.014

    authors: Provenzale JM,van Landingham K,White LE

    更新日期:2010-01-01 00:00:00

  • The spectrum of abnormal neurologic outcomes subsequent to term intrapartum asphyxia.

    abstract::The purpose of this study was to describe the spectrum of possible abnormal neurologic outcomes in term infants with intrapartum asphyxia and to identify those clinical factors associated with the later occurrence of cerebral palsy. All children with term intrapartum asphyxia encountered in a single pediatric neurolog...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.06.001

    authors: Al-Macki N,Miller SP,Hall N,Shevell M

    更新日期:2009-12-01 00:00:00

  • Primary intracranial extra-axial and supratentorial atypical rhabdoid tumor.

    abstract::An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion. We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a si...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.07.019

    authors: Bing F,Nugues F,Grand S,Bessou P,Salon C

    更新日期:2009-12-01 00:00:00

  • Novel mutation in KCNQ2 causing benign familial neonatal seizures.

    abstract::Potassium channel subunits encoded by several genes of the KCNQ family underlie the M-current. Specifically, KCNQ2 and KCNQ3 play a major role at most neuronal sites. Mutations in KCNQ2 or KCNQ3 that reduce the M-current are responsible for benign familial neonatal seizures, a rare autosomal dominant idiopathic epilep...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.05.009

    authors: Goldberg-Stern H,Kaufmann R,Kivity S,Afawi Z,Heron SE

    更新日期:2009-11-01 00:00:00

  • Fetal intracerebral hemorrhage in familial thrombophilia.

    abstract::We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleed...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.04.027

    authors: Crespin M,Alhenc-Gelas M,Grangé G,Fallet-Bianco C,Fontenay M

    更新日期:2009-10-01 00:00:00

  • Efficacy and tolerability of topiramate in pediatric migraine.

    abstract::About 5-10% of school-age children manifest migraine headaches. Treatment options for pediatric migraine are limited. Topiramate is approved for migraine prophylaxis in adults, but its use in children is limited. We retrospectively reviewed the records of 37 patients, i.e., 22 (60%) girls and 15 (40%) boys (mean age, ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.04.020

    authors: Cruz MJ,Valencia I,Legido A,Kothare SV,Khurana DS,Yum S,Hardison HH,Melvin JJ,Marks HG

    更新日期:2009-09-01 00:00:00

  • Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy.

    abstract::A patient with X-linked adrenoleukodystrophy exhibited a phenotype of neurofibromatosis 1. He had large and multiple café-au-lait spots, and had elevated serum levels of very long chain fatty acids. The patient's mother and elder sister also had X-linked adrenoleukodystrophy. This case represents novel manifestations ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.03.015

    authors: Yamada H,Izumi T

    更新日期:2009-09-01 00:00:00

  • Adherence of adolescents to multiple sclerosis disease-modifying therapy.

    abstract::In this mixed-methods study, utilization data for disease-modifying therapies were reviewed to determine the adherence rate among our pediatric multiple sclerosis cohort. Adolescents were interviewed to explore their experiences with multiple sclerosis and the impact of peer relationships on adherence to treatment. Se...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.03.004

    authors: Thannhauser JE,Mah JK,Metz LM

    更新日期:2009-08-01 00:00:00

  • Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

    abstract::Mitochondrial encephalopathies may be caused by mutations in the respiratory chain complex I subunit genes. Described here are the cases of two pediatric patients who presented with MELAS-like calcarine lesions in addition to novel, bilateral rolandic lesions and epilepsia partialis continua, secondary to MT-ND3 mutat...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.02.010

    authors: Werner KG,Morel CF,Kirton A,Benseler SM,Shoffner JM,Addis JB,Robinson BH,Burrowes DM,Blaser SI,Epstein LG,Feigenbaum AS

    更新日期:2009-07-01 00:00:00

  • Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.

    abstract::An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2009.02.004

    authors: Jovanović-Privrodski JD,Kavecan II,Obrenović MR,Buonadonna LA,Bukvić NM

    更新日期:2009-07-01 00:00:00

  • Long remission in muscle-specific kinase antibody-positive juvenile myasthenia.

    abstract::The clinical course of anti-muscle specific kinase-positive myasthenia in children has been little reported. Described here is the case of an 8 year-old boy who presented with ptosis and generalized weakness, which resolved within 1 month without any immunomodulatory treatment. This spontaneous remission lasted 6 year...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.11.014

    authors: Anlar B,Yilmaz V,Saruhan-Direskeneli G

    更新日期:2009-06-01 00:00:00

  • Pregabalin: preliminary experience in intractable childhood epilepsy.

    abstract::Pregabalin is a new antiepileptic drug that acts at presynaptic calcium channels, modulating neurotransmitter release. We report on treating consecutive children with severe drug-resistant epilepsy in a prospective, open-label, add-on trial. Nineteen children (63% male) aged 4-15 years (mean, 9.7; S.D., 2.9) were incl...

    journal_title:Pediatric neurology

    pub_type: 临床试验,杂志文章

    doi:10.1016/j.pediatrneurol.2008.12.016

    authors: Jan MM,Zuberi SA,Alsaihati BA

    更新日期:2009-05-01 00:00:00

  • Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome?

    abstract::Sturge-Weber syndrome without facial nevus is rare. Twenty-four cases were previously reported. Although hypomelanosis of Ito is a relatively common disorder, there was only one previous case in association with Sturge-Weber syndrome. We describe an 11-year-old boy with Sturge-Weber syndrome without facial nevus, coex...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.11.017

    authors: Değerliyurt A,Kantar A,Ceylaner S,Aysun S

    更新日期:2009-05-01 00:00:00

  • Risk factors for arterial ischemic and hemorrhagic stroke in childhood.

    abstract::This study assessed potential etiologies of arterial ischemic stroke and hemorrhagic stroke among children of Mainland China. From January 1996-June 2006, 251 patients with consecutive childhood stroke (aged 1 month through 16 years) were admitted to Beijing Children's Hospital. Arterial ischemic stroke accounted for ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.11.002

    authors: Wang JJ,Shi KL,Li JW,Jiang LQ,Caspi O,Fang F,Xiao J,Jing H,Zou LP

    更新日期:2009-04-01 00:00:00

  • Parry-Romberg syndrome presenting as status migrainosus.

    abstract::Parry-Romberg is a rare syndrome of unknown origin, characterized by hemiatrophy of the face including subcutaneous tissue, skeletal muscle, and bones, along with various ocular and central nervous system abnormalities. Some investigators consider that injury to the sympathetic fibers of the trigeminal nerve is a caus...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.11.007

    authors: Menascu S,Padeh S,Hoffman C,Ben-Zeev B

    更新日期:2009-04-01 00:00:00

  • Neonatal seizures: do they damage the brain?

    abstract::Seizures are an early sign of brain injury in newborns. These seizures are in most cases repetitive or associated with asymptomatic electrographic seizures. Despite the relative resistance of the immature brain to seizure-induced brain damage, there is more and more evidence that neonatal seizures impair normal brain ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/j.pediatrneurol.2008.10.026

    authors: Thibeault-Eybalin MP,Lortie A,Carmant L

    更新日期:2009-03-01 00:00:00

  • Leigh syndrome: clinical and neuroimaging follow-up.

    abstract::Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mito...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.09.020

    authors: Lee HF,Tsai CR,Chi CS,Lee HJ,Chen CC

    更新日期:2009-02-01 00:00:00

  • Mycoplasma pneumoniae--associated transverse myelitis and rhabdomyolysis.

    abstract::Mycoplasma pneumoniae is a common cause of respiratory tract infection. Extrapulmonary manifestations of M. pneumoniae infection are also common. The present case is that of a previously healthy 4-year-old boy who displayed a novel simultaneous onset of both acute rhabdomyolysis and transverse myelitis associated with...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.10.009

    authors: Weng WC,Peng SS,Wang SB,Chou YT,Lee WT

    更新日期:2009-02-01 00:00:00

  • Familial vasovagal syncope associated with migraine.

    abstract::Syncope affects all age groups and is characterized by a brief sudden loss of consciousness followed by fast recovery. Vasovagal syncope, the most common type, is generally assumed to be due to venous pooling and an abnormal sympathetic response. In approximately 20% of cases, more than one family member is affected. ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.09.003

    authors: Daas A,Mimouni-Bloch A,Rosenthal S,Shuper A

    更新日期:2009-01-01 00:00:00

  • Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation.

    abstract::The use of lipid-lowering statins has been associated with raised serum muscle enzymes and, occasionally, with rhabdomyolysis, especially in patients with pre-existing metabolic myopathies. The A3243G mutation is one of the most common mutations associated with mitochondrial disorders. A teenager harboring the A3243G ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.09.002

    authors: Tay SK,Dimauro S,Pang AY,Lai PS,Yap HK

    更新日期:2008-12-01 00:00:00

  • CNS relapse of acute myelogenous leukemia masquerading as pseudotumor cerebri.

    abstract::An 18-year-old man in remission from acute myelogenous leukemia 3 years after a bone marrow transplant presented with signs of pseudotumor cerebri, including headache, visual changes, and papilledema. He manifested elevated opening pressure on lumbar puncture and positive cytology, with a concurrent normal bone marrow...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.07.025

    authors: Lipton J,Joffe S,Ullrich NJ

    更新日期:2008-11-01 00:00:00

  • Anxiety and depressive symptoms in children presenting with a first seizure.

    abstract::We investigated whether children presenting with a first seizure experienced anxiety and depressive signs. Children (aged 7-17 years) with a first unprovoked afebrile seizure participated. These patients (mean age, 12 +/- 2.7 years S.D.; 14 female/8 male) completed the Revised Child Manifest Anxiety Scale (n = 22) and...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.07.005

    authors: Loney JC,Wirrell EC,Sherman EM,Hamiwka LD

    更新日期:2008-10-01 00:00:00

  • Epidermal nevus syndrome with azygos anterior cerebral artery.

    abstract::Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. Central nervous system abnormalities include hemimegalencephaly, hydrocephalus, various migration disorders, intraspinal lipomas, and enlarged spinal roots. Ra...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.06.016

    authors: Kara B,Inan N,Bayramgürler D,Altintaş O,Akbulut A

    更新日期:2008-10-01 00:00:00

  • Rapid eye movement latency in children and adolescents.

    abstract::Rapid eye movement sleep distribution changes during development, but little is known about rapid eye movement latency variation in childhood by age, sex, or pathologic sleep states. We hypothesized that: (1) rapid eye movement latency would differ in normal children by age, with a younger cohort (1-10 years) demonstr...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.06.011

    authors: Mason TB 2nd,Teoh L,Calabro K,Traylor J,Karamessinis L,Schultz B,Samuel J,Gallagher PR,Marcus CL

    更新日期:2008-09-01 00:00:00

  • Neuromyelitis optica in a young child with positive serum autoantibody.

    abstract::Relapsing neuromyelitis optica is rare in children. The identification of a highly specific serum autoantibody marker (neuromyelitis optica-immunoglobulin G) differentiates neuromyelitis optica from other demyelinating disorders, particularly in clinically challenging cases. We present a child with multiple episodes o...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.05.016

    authors: Loma IP,Asato MR,Filipink RA,Alper G

    更新日期:2008-09-01 00:00:00

  • Levetiracetam in continuous spike waves during slow-wave sleep syndrome.

    abstract::We investigated the clinical characteristics of children with continuous spike waves during slow-wave sleep syndrome and their treatment response to levetiracetam. Five boys and one girl, diagnosed with epilepsy with continuous spike waves during slow-wave sleep syndrome, were enrolled. Their clinical characteristics,...

    journal_title:Pediatric neurology

    pub_type: 临床试验,杂志文章

    doi:10.1016/j.pediatrneurol.2008.04.007

    authors: Wang SB,Weng WC,Fan PC,Lee WT

    更新日期:2008-08-01 00:00:00

  • Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion.

    abstract::We describe a case of female Becker muscular dystrophy with 45,X/46,X,r(X), carrying an out-of-frame deletion in a nonhot-spot region of the DMD gene. Multiplex polymerase chain reaction did not detect the deletion, because the deleted exons 31-42 comprise a nonhot-spot region, and the product for exon 43 was detected...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.05.002

    authors: Lee KA,Han SH,Choi JR,Chung JS,Choi YC

    更新日期:2008-08-01 00:00:00

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