Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Dennis W. Bartholomew"'
Autor:
Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Reza Bekheirnia
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background The nuclear encoded gene RMND1 (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1‐related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an infa
Externí odkaz:
https://doaj.org/article/5a22357734eb44adac9257ae520ef0ed
Autor:
Satoko Hojo, Jiro Fujita, Hiroshi Miyawaki, Yuka Obayashi, Jiro Takahara, Dennis W. Bartholomew
Publikováno v:
Clinical Genetics. 53:50-53
Autor:
Jiro Fujita, Jiro Takahara, Yuka Obayashi, Dennis W. Bartholomew, Satoko Hojo, Hiroshi Miyawaki
Publikováno v:
Clinical Genetics. 53:50-53
This report is concerned with twins with cystic fibrosis (CF). They are of mixed parentage: Japanese mother and German father. One case is presented with meconium ileus as a neonate. The other patient did relatively well until the age of 6 years when
Autor:
Robert E, Frank, Dennis W, Bartholomew
Publikováno v:
Journal of insurance medicine (New York, N.Y.). 36(2)
Cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been descr
Publikováno v:
The Journal of pediatrics. 119(6)
We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in the neonatal period, and discuss the long-term developmental outcome of survivors. The families of 32 infants, among 43 ide
Publikováno v:
American journal of obstetrics and gynecology. 162(1)
Clinical genetics has become an integral component of obstetric training. Advances in prenatal screening (particularly maternal serum α-fetoprotein) and the clinical applications of molecular technologies have broadened the indications for referral
Publikováno v:
American Journal of Medical Genetics; 2003, Vol. 123 Issue 1, p91, 4p
Autor:
David S. Rosenblatt, Clair A. Francomano, David Valle, Mark L. Batshaw, Robert H. Allen, Charles R. Roe, Dennis W. Bartholomew
Publikováno v:
The Journal of pediatrics. 112(1)
The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria. When daily injections of 1 mg OH-B12 were discontinued for 3 weeks, there
Autor:
Eduardo Rueda-Vasquez, David Mishkin, Michael A. Zemmel, Allan T. Bombard, Dennis W. Bartholomew, David T. Rigdon
Publikováno v:
Military Medicine. 153:595-596