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About 234 results

ALLMedicine™ Alacrima Center

Research & Reviews  117 results

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
https://doi.org/10.1172/JCI139076
The Journal of Clinical Investigation; Franzka P, Henze H et. al.

Mar 23rd, 2021 - GDP-mannose-pyrophosphorylase-B (GMPPB) facilitates the generation of GDP-mannose, a sugar donor required for glycosylation. GMPPB defects cause muscle disease due to hypoglycosylation of α-dystroglycan (α-DG). Alpha-DG is part of a protein comple...

New Onset Alacrima as a Presenting Feature of a Skull Base Chondrosarcoma.
https://doi.org/10.1097/IOP.0000000000001683
Ophthalmic Plastic and Reconstructive Surgery; Lee H, Oliphant H et. al.

May 19th, 2020 - Acquired unilateral alacrima as a presenting sign of an intracranial tumor is exceptionally rare, and only described once previously in a case of nasopharyngeal carcinoma. The authors present a 32-year-old female patient who presents with a year-l...

Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322575
Human Molecular Genetics; Asahina M, Fujinawa R et. al.

Apr 7th, 2020 - N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological p...

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
https://doi.org/10.1007/s40618-020-01180-1
Journal of Endocrinological Investigation; Vezzoli V, Duminuco P et. al.

Jan 15th, 2020 - The triple A syndrome (AAAS) is an inherited condition associated with mutations in the AAAS gene, which encodes a protein of 546 amino acids known as ALADIN (alacrima achalasia adrenal insufficiency neurologic disorder) whose function is not well...

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with ...
https://doi.org/10.1002/ajmg.a.61476
American Journal of Medical Genetics. Part A REFERENCES; Diaz J, Kane TD et. al.

Jan 3rd, 2020 - Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacri...

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Clinicaltrials.gov  117 results

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
https://doi.org/10.1172/JCI139076
The Journal of Clinical Investigation; Franzka P, Henze H et. al.

Mar 23rd, 2021 - GDP-mannose-pyrophosphorylase-B (GMPPB) facilitates the generation of GDP-mannose, a sugar donor required for glycosylation. GMPPB defects cause muscle disease due to hypoglycosylation of α-dystroglycan (α-DG). Alpha-DG is part of a protein comple...

New Onset Alacrima as a Presenting Feature of a Skull Base Chondrosarcoma.
https://doi.org/10.1097/IOP.0000000000001683
Ophthalmic Plastic and Reconstructive Surgery; Lee H, Oliphant H et. al.

May 19th, 2020 - Acquired unilateral alacrima as a presenting sign of an intracranial tumor is exceptionally rare, and only described once previously in a case of nasopharyngeal carcinoma. The authors present a 32-year-old female patient who presents with a year-l...

Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322575
Human Molecular Genetics; Asahina M, Fujinawa R et. al.

Apr 7th, 2020 - N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological p...

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
https://doi.org/10.1007/s40618-020-01180-1
Journal of Endocrinological Investigation; Vezzoli V, Duminuco P et. al.

Jan 15th, 2020 - The triple A syndrome (AAAS) is an inherited condition associated with mutations in the AAAS gene, which encodes a protein of 546 amino acids known as ALADIN (alacrima achalasia adrenal insufficiency neurologic disorder) whose function is not well...

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with ...
https://doi.org/10.1002/ajmg.a.61476
American Journal of Medical Genetics. Part A REFERENCES; Diaz J, Kane TD et. al.

Jan 3rd, 2020 - Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacri...

see more →