نتایج جستجو برای: metachromatic leukodystrophy

تعداد نتایج: 3076  

Journal: :Archives of disease in childhood 1999
A Akbar D H Parikh H Alton J R Clarke P H Weller S H Green

A 2.5 year old girl with metachromatic leukodystrophy presented with acute respiratory distress and was initially wrongly diagnosed with pneumothorax. Barium meal showed bowel loops in the left hemithorax, which prompted surgical intervention; spontaneous rupture of the diaphragm was diagnosed at surgery.

Journal: :The Journal of the Acoustical Society of America 1977
K Reeder W J Strong E P Palmer

In summary, the data from the present experiment indicate that the hierarchy of MLD's is the same in simultaneous and temporal masking; however, there are differences in the amount of additional masking obtained across monaural and binaural conditions in the combined forward-backward masking procedure. These results were viewed as indicating that the temporal (phase) and intensive information a...

2012
Michihiko TAKASU Katsuhiro TEMMA Tetsuya YAMAMOTO Fumiyuki ADACHI

あらまし QR 分解と M アルゴリズムを用いる演算量削減型最尤ブロック信号検出法(QRM-MLBD)は,最尤検出 (MLD)から演算量を大幅に削減しつつ,最小二乗誤差規範に基づく空間フィルタリング(MMSED)に比べシングルキ ャリア(SC)マルチ送受信アンテナ(MIMO)多重伝送の伝送特性を大幅に改善できる.しかしながら,M アルゴリズ ムにおけるパスメトリック演算では,各ステージで全てのシンボル候補について計算を行うため,QRM-MLBD の 演算量は依然として大きい.そこでシングルアンテナ(SISO)伝送を対象に,筆者らは最近,MMSE 規範に基づく周 波数領域等化(MMSE-FDE)出力から事後確率を計算してシンボル候補を絞り込むことでパスメトリック演算量を削 減する 2 ステップ QRM-MLBD を提案した.本報告では,2 ステップ QRM-MLBD を用いる SC-M...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2009
Saber Chebel Ilhem Barboura Amel Boughammoura-Bouatay Manel Ammar Salima Ferchichi Abdelhedi Miled Mahbouba Frih-Ayed

recessive lysosomal storage disease caused by a deficiency of arylsulphatase A (ASA). It is characterized by accumulation of sulphatide in the white matter in the central nervous system and peripheral nerves1. The disease is divided in four subtypes, according to onset, severity and progression of the disease: late infantile (before age 4), early juvenile (age 4 to 6), late juvenile (age 6 to 1...

Journal: :Acta paediatrica 2008
Volkmar Gieselmann

UNLABELLED Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of arylsulphatase A (ASA). This leads to storage of the membrane lipid sulphatide, which is abundant in myelin. A pathological hallmark of the disease is demyelination, causing various and ultimately lethal neurological symptoms. Today more than 110 mutations in the ASA gene have been identified, of ...

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