Prenatal Diagnosis of Inherited Metabolic Disorders by Stable Isotope Dilution GC-MS Analysis of Metabolites in Amniotic Fluid: Review of Four Years Experience

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1069-0_23 ◽

1989 ◽

pp. 267-270 ◽

Author(s):

C. Jakobs

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Metabolic Disorders ◽

Stable Isotope Dilution ◽

Ms Analysis ◽

Inherited Metabolic Disorders

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Prenatal Diagnosis of Inherited Metabolic Disorders by Stable Isotope Dilution GC-MS Analysis of Metabolites in Amniotic Fluid: Review of Four Years Experience

Journal of Inherited Metabolic Disease ◽

10.1007/bf03335394 ◽

1989 ◽

Vol 12 (S2) ◽

pp. 267-270 ◽

Author(s):

C. Jakobs

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Metabolic Disorders ◽

Stable Isotope Dilution ◽

Ms Analysis ◽

Inherited Metabolic Disorders

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Stable Isotope Dilution Analysis of Isovalerylglycine in Amniotic Fluid and Urine and Its Application for the Prenatal Diagnosis of Isovaleric Acidemia

Pediatric Research ◽

10.1203/00006450-198603000-00005 ◽

1986 ◽

Vol 20 (3) ◽

pp. 222-226 ◽

Author(s):

David G Hine ◽

Adelle M Hack ◽

Stephen I Goodman ◽

Kay Tanaka

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Isotope Dilution Analysis ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution ◽

Isovaleric Acidemia

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Prenatal Diagnosis of Propionic and Methylmalonic Acidaemia by Stable Isotope Dilution Analysis of Amniotic Fluid

Journal of Inherited Metabolic Disease ◽

10.1007/bf03335395 ◽

1989 ◽

Vol 12 (S2) ◽

pp. 271-273 ◽

Author(s):

J. Holm ◽

L. Ponders ◽

L. Sweetman

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Isotope Dilution Analysis ◽

Stable Isotope Dilution Analysis ◽

Methylmalonic Acidaemia ◽

Stable Isotope Dilution

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Prenatal Diagnosis of Propionic and Methylmalonic Acidaemia by Stable Isotope Dilution Analysis of Amniotic Fluid

Studies in Inherited Metabolic Disease ◽

10.1007/978-94-009-1069-0_24 ◽

1989 ◽

pp. 271-273 ◽

Author(s):

J. Holm ◽

L. Ponders ◽

L. Sweetman

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Isotope Dilution Analysis ◽

Stable Isotope Dilution Analysis ◽

Methylmalonic Acidaemia ◽

Stable Isotope Dilution

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Stable isotope dilution analysis ofN-acetylaspartic acid in CSF, blood, urine and amniotic fluid: Accurate postnatal diagnosis and the potential for prenatal diagnosis of canavan disease

Journal of Inherited Metabolic Disease ◽

10.1007/bf01799929 ◽

1991 ◽

Vol 14 (5) ◽

pp. 653-660 ◽

Author(s):

C. Jakobs ◽

H. J. ten Brink ◽

S. A. Langelaar ◽

T. Zee ◽

F. Stellaard ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Canavan Disease ◽

Isotope Dilution Analysis ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution ◽

Postnatal Diagnosis

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Stable Isotope Dilution Analysis of Galactitol in Amniotic Fluid: an Accurate Approach to the Prenatal Diagnosis of Galactosemia

Pediatric Research ◽

10.1203/00006450-198408000-00007 ◽

1984 ◽

Vol 18 (8) ◽

pp. 714-718 ◽

Author(s):

Cornelis Jakobs ◽

Thomas G Warner ◽

Lawrence Sweetman ◽

William L Nyhan

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Isotope Dilution Analysis ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution

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Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: Contribution to the prenatal diagnosis of inherited disorders of leucine catabolism

Journal of Inherited Metabolic Disease ◽

10.1007/bf01805614 ◽

1984 ◽

Vol 7 (1) ◽

pp. 15-20 ◽

Author(s):

C. Jakobs ◽

L. Sweetman ◽

W. L. Nyhan ◽

S. Packman

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Isotope Dilution Analysis ◽

Inherited Disorders ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution ◽

Leucine Catabolism

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The Stable Isotope Dilution Method for Measurement of Methylmalonic Acid: a Highly Accurate Approach to the Prenatal Diagnosis of Methylmalonic Acidemia

Pediatric Research ◽

10.1203/00006450-198209000-00007 ◽

1982 ◽

Vol 16 (9) ◽

pp. 740-745 ◽

Author(s):

Arthur B Zinn ◽

David G Hine ◽

Maurice J Mahoney ◽

Kay Tanaka

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Isotope Dilution ◽

Methylmalonic Acid ◽

Methylmalonic Acidemia ◽

Isotope Dilution Method ◽

Dilution Method ◽

Stable Isotope Dilution

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Simultaneous quantification of trans-resveratrol and its sulfate and glucuronide metabolites in rat tissues by stable isotope-dilution UPLC–MS/MS analysis

Journal of Pharmaceutical and Biomedical Analysis ◽

10.1016/j.jpba.2014.01.039 ◽

2014 ◽

Vol 94 ◽

pp. 99-105 ◽

Author(s):

Bih-Show Lou ◽

Pei-Shan Wu ◽

Chun-Wei Hou ◽

Fu-yin Cheng ◽

Jan-Kan Chen

Keyword(s):

Stable Isotope ◽

Isotope Dilution ◽

Rat Tissues ◽

Stable Isotope Dilution ◽

Simultaneous Quantification ◽

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Profiling Steroid Hormones in Amniotic Fluid of Midpregnancy by Routine Stable Isotope Dilution/Gas Chromatography-Mass Spectrometry: Reference Values and Concentrations in Fetuses at Risk for 21-Hydroxylase Deficiency

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.84.8.2724 ◽

1999 ◽

Vol 84 (8) ◽

pp. 2724-2728 ◽

Author(s):

S. A. Wudy

Keyword(s):

Mass Spectrometry ◽

Gas Chromatography ◽

Stable Isotope ◽

Amniotic Fluid ◽

Steroid Hormones ◽

Isotope Dilution ◽

Gas Chromatography Mass Spectrometry ◽

Hydroxylase Deficiency ◽

Stable Isotope Dilution ◽

21 Hydroxylase Deficiency

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