Recent Publications on Abetalipoproteinemia: |  |
Maternal Abetalipoproteinemia Resulting in Multiple Fetal Anomalies.
Abetalipoproteinemia is a rare genetic condition that results in an...
Direct Link | 12th September, 2008
| Department of Pediatrics, Commonwealth Health Center, Saipan, Northern
|
| [Neuroacanthocytosis update]
| 13th August, 2008
| Department of Psychiatry, Kagoshima University Graduate School of Medical
|
Abetalipoproteinemia: two case reports and literature review.
Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive...
Direct Link | 12th August, 2008
| Department of Medicine and Biochemistry, University of Western Ontario,
|
| Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations.
| 23rd May, 2008
|
|
Abetalipoproteinemia.
Neuroacanthocytosis is an inclusive term for a genetically heterogeneous...
Direct Link | 10th May, 2008
| Department of Pediatrics, Scott & White Memorial Hospital, Scott, Sherwood
|
Abetalipoproteinemia complicating the puerperium.
BACKGROUND: Abetalipoproteinemia is a rare, autosomal recessive disease,...
Direct Link | 28th March, 2008
| Department of Obstetrics and Gynecology, University of Oklahoma Health
|
Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes.
We investigated, for the first time, the expression of I- and L-FABP in...
Direct Link | 7th February, 2008
| Institut National de la Sante et de la Recherche Medicale (INSERM), U773,
|
Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.
Abetalipoproteinaemia (ABL) and homozygous familial...
Direct Link | 9th January, 2008
| Department of Gastroenterology, The Children's Hospital at Westmead,
|
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Primary hypobetalipoproteinemia (HBL) includes a group of genetic...
Direct Link | 5th January, 2008
| Department of Biomedical Sciences, University of Modena e Reggio Emilia,
|
| [Abetalipoproteinemia]
| 29th September, 2007
| Department of Metabolic Diseases, The University of Tokyo Hospital.
|
| Abetalipoproteinemia induced by overexpression of ORP150 in mice.
| 25th July, 2007
| HSP Research Institute, Kyoto Research Park, Shimogyo-ku, Kyoto, Japan.
|
Familial hypercholesterolemia.
Primary hypobetalipoproteinemia (HBL) includes a group of genetic...
Direct Link | 2nd May, 2007
|
|
| Hepatosteatosis with hypobetalipoproteinemia.
| 25th April, 2007
| Departments of Internal Medicine, Hacettepe University Medical School,
|
| [An adult case of probable Bassen-Kornzweig syndrome, presenting resting tremor]
| 28th March, 2007
| Department of Neurology, Neurological Institute, Graduate School of
|
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias...
Direct Link | 16th March, 2007
| Department of Neurology, David Geffen School of Medicine at UCLA,
|
