scholarly journals Early‐onset vitamin B 6 ‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

JIMD Reports ◽  
2020 ◽  
Author(s):  
Oliver Heath ◽  
James Pitt ◽  
Simone Mandelstam ◽  
Carl Kuschel ◽  
Anand Vasudevan ◽  
...  
2012 ◽  
Vol 3 ◽  
pp. S113
Author(s):  
S. Sahin ◽  
M. Ozisik ◽  
S. Duman ◽  
Z. Karasu ◽  
B. Arda ◽  
...  

1998 ◽  
Vol 15 (01) ◽  
pp. 35-38 ◽  
Author(s):  
Nehama Linder ◽  
Nathan Keller ◽  
Chaim Huri ◽  
Jacob Kuint ◽  
Anna Goldshmidt-Reuven ◽  
...  

2009 ◽  
Vol 67 (1) ◽  
pp. 218-222 ◽  
Author(s):  
Belmiro Cavalcanti do Egito Vasconcelos ◽  
Carlos Augusto Pereira Lago ◽  
Ricardo Viana Bessa Nogueira ◽  
David Gomes de Alencar Gondim ◽  
Arnaldo Brito Filho

Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 397-409
Author(s):  
Giovanni Cochetti ◽  
Alessio Paladini ◽  
Jacopo Adolfo Rossi de Vermandois ◽  
Sonia Fatigoni ◽  
Magda Zanelli ◽  
...  

Abstract Primary renal extra-skeletal Ewing sarcoma is a rare neoplasm, often metastatic at diagnosis, and with a poor outcome. A multimodal approach is often the treatment of choice in this aggressive neoplasm. We present a case of primary renal extra-skeletal sarcoma in a 45-year-old woman who underwent tumor resection without clear margins. After no response to the first cycle of chemotherapy, we documented an early onset of local recurrence. The patient refused any other treatment and died four months after surgery.


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