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Maple syrup urine disease 1954 to 1993

✍ Scribed by F. Peinemann; D. J. Danner

Publisher: Springer
Year: 1994
Tongue: English
Weight: 915 KB
Volume: 17
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf00735389

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📜 SIMILAR VOLUMES

Maple syrup urine disease

✍ Crome, L. ;Dutton, G. ;Ross, C. F. 📂 Article 📅 1961 🏛 Wiley (John Wiley & Sons) 🌐 English ⚖ 656 KB

Mild variant of maple syrup urine diseas

Mild variant of maple syrup urine disease

✍ Soichi Kodama; Atsusi Seki; Michisada Hanabusa; Yorihiko Morisita; Takasi Sakura 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 312 KB

Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quant

Antenatal diagnosis of maple syrup urine

Antenatal diagnosis of maple syrup urine disease

✍ Hoo, J. J. ;Latta, E. ;Schauml�ffel, E. 📂 Article 📅 1974 🏛 Springer-Verlag ⚖ 239 KB

Antenatal diagnosis of MSUD was carried out in a family with 2 known MSUD cases. By means of a relatively simple method we were able to show that the enzyme activity of the cultivated amnion cells (female karyotype) was not lower than the activities of the control cells. The birth of a healthy girl

Acute axonal neuropathy in maple syrup u

Acute axonal neuropathy in maple syrup urine disease

✍ Kleopas A. Kleopa; David M. Raizen; Christopher A. Friedrich; Mark J. Brown; Sha 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB

Domino liver transplantation in maple sy

Domino liver transplantation in maple syrup urine disease

✍ Ajai Khanna; Marquis Hart; William L. Nyhan; Tarek Hassanein; Janice Panyard-Dav 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB

Liver transplantation has been reported in a few cases of maple syrup urine disease (MSUD), but is controversial. Many patients with approved indications for liver transplantation die before grafts are available. A 25-yr-old man with MSUD underwent liver transplantation, and his liver was used as a

Mutational spectrum of maple syrup urine

Mutational spectrum of maple syrup urine disease in Spain

✍ Pilar Rodríguez-Pombo; Rosa Navarrete; Begoña Merinero; Paulino Gómez-Puertas; M 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 496 KB

Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic components of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular