1-5 of 5
Keywords: Triple A syndrome
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child

Subject Area:
Endocrinology , Women's and Children's Health
Maria Candida Barisson Villares Fragoso, Edoarda Vasco de Albuquerque Albuquerque, Ana Luiza de Almeida Cardoso, Paula Waki Lopes da Rosa, Rodrigo Bomeny de Paulo, Maria Heloisa Massola Schimizu, Antonio Carlos Seguro, Marisa Passarelli, Katrin Koehler, Angela Huebner, Madson Q. Almeida, Ana Claudia Latronico, Ivo Jorge Prado Arnhold, Berenice Bilharinho Mendonca
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2017) 88 (2): 167–171.
https://doi.org/10.1159/000465520
Published Online: 10 April 2017
... Claudia Latronico; Ivo Jorge Prado Arnhold; Berenice Bilharinho Mendonca Introduction: Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative...
View articletitled, Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child
Open the PDF for Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child in another window
Journal Articles

A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism

Subject Area:
Endocrinology , Women's and Children's Health
Lamia Cherif Ben Abdallah, Youssef Lakhoua, Majdi Nagara, Karima Khiari, Sahar Elouej, Olfa Messaoud, Yosra Bouyacoub, Lilia Romdhane, Zinet Turki, Sonia Abdelhak, Nejib Ben Abdallah
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (5): 338–343.
https://doi.org/10.1159/000365888
Published Online: 18 September 2014
...Lamia Cherif Ben Abdallah; Youssef Lakhoua; Majdi Nagara; Karima Khiari; Sahar Elouej; Olfa Messaoud; Yosra Bouyacoub; Lilia Romdhane; Zinet Turki; Sonia Abdelhak; Nejib Ben Abdallah Background/Aims: The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has...
View articletitled, A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism
Open the PDF for A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism in another window
Journal Articles

Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders

Subject Area:
Endocrinology , Women's and Children's Health
Silvia Marín, Paula Casano-Sancho, Nancy Villarreal-Peña, Giorgia Sebastiani, Sergio Pinillos, Belén Pérez-Dueñas, Vivian Hwa, Ron G. Rosenfeld, Lourdes Ibáñez
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (1): 63–68.
https://doi.org/10.1159/000335235
Published Online: 20 January 2012
...Silvia Marín; Paula Casano-Sancho; Nancy Villarreal-Peña; Giorgia Sebastiani; Sergio Pinillos; Belén Pérez-Dueñas; Vivian Hwa; Ron G. Rosenfeld; Lourdes Ibáñez Background: Primary growth hormone insensitivity (GHI) and triple A syndrome are rare autosomal recessive disorders. Case Report...
View articletitled, Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders
Open the PDF for Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders in another window
Journal Articles

A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome

Subject Area:
Endocrinology , Women's and Children's Health
Tina Dusek, Marta Korsic, Katrin Koehler, Zdravko Perkovic, Angela Huebner, Mirko Korsic
Journal: Hormone Research in Paediatrics
Hormone Research (2006) 65 (4): 171–176.
https://doi.org/10.1159/000092003
Published Online: 09 May 2006
...Tina Dusek; Marta Korsic; Katrin Koehler; Zdravko Perkovic; Angela Huebner; Mirko Korsic Objective: The clinical and molecular data of a patient with triple A syndrome are reported. Patient: A 21-year-old male who was diagnosed for adrenal insufficiency at the age of 2 years after a severe attack...
View articletitled, A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome
Open the PDF for A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome in another window
Journal Articles

Clinical and Novel Molecular Findings in a 6.8-Year-Old Turkish Boy with Triple A Syndrome

Subject Area:
Endocrinology , Women's and Children's Health
Kerstin Schmittmann-Ohters, Angela Huebner, Annette Richter-Unruh, Berthold P. Hauffa
Journal: Hormone Research in Paediatrics
Hormone Research (2001) 56 (1-2): 67–72.
https://doi.org/10.1159/000048093
Published Online: 31 January 2002
...Kerstin Schmittmann-Ohters; Angela Huebner; Annette Richter-Unruh; Berthold P. Hauffa Background: The triple A syndrome is characterized by the main features adrenal insufficiency, achalasia and alacrima. Other organ systems can be involved in a variable manner. Patient: We report clinical...
View articletitled, Clinical and Novel Molecular Findings in a 6.8-Year-Old Turkish Boy with Triple A Syndrome
Open the PDF for Clinical and Novel Molecular Findings in a 6.8-Year-Old Turkish Boy with Triple A Syndrome in another window