scholarly journals Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

2015 ◽  
pp. 39-45 ◽  
Author(s):  
Clément Pontoizeau ◽  
Florence Habarou ◽  
Anaïs Brassier ◽  
Alice Veauville-Merllié ◽  
Coraline Grisel ◽  
...  
Keyword(s):  
Glutaric Aciduria

scholarly journals Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

2015 ◽  
Vol 15 ◽  
pp. 92-94 ◽  
Author(s):  
Ebru Ortac Ersoy ◽  
Dorina Rama ◽  
Özlem Ünal ◽  
Serap Sivri ◽  
Arzu Topeli
Keyword(s):  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria

Ivemark's Renal-Hepatic-Pancreatic Dysplasia: Analytic Approach to a Perinatal Autopsy

1999 ◽  
Vol 2 (1) ◽  
pp. 94-100 ◽  
Author(s):  
Robert W. Bendon
Keyword(s):  
Differential Diagnosis ◽  
Molecular Basis ◽  
Glutaric Aciduria Type ◽  
Analytic Approach ◽  
Glutaric Aciduria ◽  
Meckel Syndrome ◽  
Perinatal Autopsy

A case of Ivemark's renal-hepatic dysplasia syndrome is presented. The findings are suggestive of a ductal obstructive process anatomically located at the junction of ducts with the parenchyma. The differential diagnosis includes Meckel syndrome, short rib polydactyly syndromes, and glutaric aciduria type 2. The molecular basis for this syndrome remains unknown.

Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy

2010 ◽  
Vol 43 (4) ◽  
pp. 279-282 ◽  
Author(s):  
Pornswan Wasant ◽  
Chulaluck Kuptanon ◽  
Nithiwat Vattanavicharn ◽  
Somporn Liammongkolkul ◽  
Pisanu Ratanarak ◽  
...  
Keyword(s):  
Late Onset ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Onset Type

Congenital anomalies in glutaric aciduria type 2

1984 ◽  
Vol 104 (6) ◽  
pp. 961 ◽  
Author(s):  
G. Mitchell ◽  
J.M. Saudubray ◽  
M.C. Gubler ◽  
R. Habib ◽  
H. Ogier ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria

Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2

1991 ◽  
Vol 11 (2) ◽  
pp. 77-82 ◽  
Author(s):  
Toru Sakuma ◽  
Naruji Sugiyama ◽  
Takashi Ichiki ◽  
Masanori Kobayashi ◽  
Yoshiro Wada ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Maternal Urine

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

2010 ◽  
Vol 32 (1) ◽  
pp. E1976-E1984 ◽  
Author(s):  
Gladys Ho ◽  
Atsushi Yonezawa ◽  
Satohiro Masuda ◽  
Ken-ichi Inui ◽  
Keow G. Sim ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Transporter Gene ◽  
Riboflavin Deficiency ◽  
Glutaric Aciduria ◽  
Neonatal Onset
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