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

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

1985 ◽  
Vol 8 (S2) ◽  
pp. 145-146 ◽  
Author(s):  
R. A. Chalmers ◽  
B. M. Tracey ◽  
G. S. King ◽  
B. Pettit ◽  
F. Rocchiccioli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Glutaric Aciduria Type ◽  
Type Ii ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type Ii

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

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid

1984 ◽  
Vol 141 (3) ◽  
pp. 153-157 ◽  
Author(s):  
C. Jakobs ◽  
L. Sweetman ◽  
S. K. Wadman ◽  
M. Duran ◽  
J.-M. Saudubray ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chemical Analysis ◽  
Amniotic Fluid ◽  
Dicarboxylic Acids ◽  
Glutaric Aciduria Type ◽  
Type Ii ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type Ii

Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II

1999 ◽  
Vol 22 (1) ◽  
pp. 88-89 ◽  
Author(s):  
N. J. Manning ◽  
J. R. Bonham ◽  
M. Downing ◽  
R. G. Edwards ◽  
S. E. Olpin ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type Ii ◽  
Glutaric Aciduria ◽  
Maternal Urine ◽  
Glutaric Aciduria Type Ii

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

1998 ◽  
Vol 21 (3) ◽  
pp. 243-246 ◽  
Author(s):  
C. Busquets ◽  
M. J. Coll ◽  
E. Christensen ◽  
J. Campistol ◽  
N. Clusellas ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Chorionic Villi ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I
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