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ALLMedicine™ Amish Lethal Microcephaly Center

Research & Reviews  5 results

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and...
https://doi.org/10.1515/jpem-2020-0139
Journal of Pediatric Endocrinology & Metabolism : JPEM; Porta F, Siri B et. al.

Feb 5th, 2021 - Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The se...

Amish Lethal Microcephaly - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/amish-mcph/

Dec 6th, 2017 - Amish lethal microcephaly is characterized by severe congenital microcephaly and highly elevated 2-ketoglutarate or lactic acidosis. The occipitofrontal circumference is typically more than two standard deviations (occasionally >6 SD) below the me...

Mitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758298
PloS One; Subramanian VS, Nabokina SM et. al.

Sep 11th, 2013 - Mammalian cells obtain vitamin B1 (thiamin) from their surrounding environment and convert it to thiamin pyrophosphate (TPP) in the cytoplasm. Most of TPP is then transported into the mitochondria via a carrier-mediated process that involves the m...

Amish lethal microcephaly
https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly

Nov 30th, 2010 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99742 Definition A very rare syndrome characterized by extreme microcephaly and early death, within the first year...

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Clinicaltrials.gov  5 results

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and...
https://doi.org/10.1515/jpem-2020-0139
Journal of Pediatric Endocrinology & Metabolism : JPEM; Porta F, Siri B et. al.

Feb 5th, 2021 - Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The se...

Amish Lethal Microcephaly - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/amish-mcph/

Dec 6th, 2017 - Amish lethal microcephaly is characterized by severe congenital microcephaly and highly elevated 2-ketoglutarate or lactic acidosis. The occipitofrontal circumference is typically more than two standard deviations (occasionally >6 SD) below the me...

Mitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758298
PloS One; Subramanian VS, Nabokina SM et. al.

Sep 11th, 2013 - Mammalian cells obtain vitamin B1 (thiamin) from their surrounding environment and convert it to thiamin pyrophosphate (TPP) in the cytoplasm. Most of TPP is then transported into the mitochondria via a carrier-mediated process that involves the m...

Amish lethal microcephaly
https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly

Nov 30th, 2010 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99742 Definition A very rare syndrome characterized by extreme microcephaly and early death, within the first year...

see more →