scholarly journals Methylmalonic Acidemia- A Rare Inborn Error of Metabolism

2016 ◽  
Author(s):  
Charusheela Sujit Korday
Keyword(s):  
Inborn Error ◽  
Methylmalonic Acidemia ◽  
Inborn Error Of Metabolism ◽  
Rare Inborn Error

scholarly journals A rare inborn error of metabolism masquerading as meningitis

2016 ◽  
Vol 9 (6) ◽  
pp. 753
Author(s):  
Madhumita Nandi ◽  
Sumantra Sarkar ◽  
Tapan Dhibar
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Rare Inborn Error

Tocopherol Therapy in Acanthocytosis

PEDIATRICS ◽  
1971 ◽  
Vol 48 (4) ◽  
pp. 669-671
Author(s):  
Kurt Wallis ◽  
Meir Gross ◽  
Jacob L. Zaidman ◽  
Angela Julsary ◽  
Aryeh Szeinberg ◽  
...  
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Turkish Origin ◽  
Rare Inborn Error

Acanthocytosis or a-beta-lipoproteinemia is a rare inborn error of metabolism known also as the "Bassen Kornzweig syndrome."1 We had See Images in the PDF File the opportunity to examine a Jewish girl, H.F., 11 years old, with a-beta-lipoproteinemia. The girl has healthy parents of Turkish origin who are first cousins, and a healthy brother and sister. At the age of 33½ months she was admitted to this hospital with a picture of malabsorption and from then on she was under our permanent observation.

scholarly journals A rare inborn error of metabolism associated with a Dandy–Walker malformation

2012 ◽  
Vol 112 (4) ◽  
pp. 425-426 ◽  
Author(s):  
Limeme Manel ◽  
Zaghouani Ben Alaya Houneida ◽  
Amara Habib ◽  
Bakir Dejla ◽  
Kraiem Chekib
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Dandy Walker Malformation ◽  
Walker Malformation ◽  
Rare Inborn Error

Methylmalonic Acidemia a new inborn error of metabolism which may cause fatal acidosis in the neonatal period

1967 ◽  
Vol 20 (4) ◽  
pp. 313-328 ◽  
Author(s):  
O. Stokke ◽  
L. Eldjarn ◽  
K. R. Norum ◽  
J. Steen-johnsen ◽  
S. Halvorsen
Keyword(s):  
Inborn Error ◽  
Neonatal Period ◽  
Methylmalonic Acidemia ◽  
Inborn Error Of Metabolism

Resolution of severe cardiomyopathy in infantile Pompe disease

2013 ◽  
Vol 25 (1) ◽  
pp. 146-148
Author(s):  
John J. Parent ◽  
Marcus Schamberger
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Rare Inborn Error

AbstractInfantile Pompe disease is a rare inborn error of metabolism characterized by severe hypertrophic cardiomyopathy and generalised hypotonia occurring in infancy. We present a case of an infant with severe hypertrophic cardiomyopathy that resolved after treatment with enzyme replacement therapy.

Early Prenatal Diagnosis of Inborn Error of Metabolism: A Case Report of a Fetus Affected with Fabry's Disease

2010 ◽  
Vol 11 (1) ◽  
pp. 39-45 ◽  
Author(s):  
Osamu Tsutsumi ◽  
Masahito Sato ◽  
Kodo Sato ◽  
Kazuo Sato ◽  
Masahiko Mizuno ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Fabry’S Disease ◽  
Fabry's Disease
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