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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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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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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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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Stable-Isotope Dilution Analysis of D- and L-2-Hydroxyglutaric Acid: Application to the Detection and Prenatal Diagnosis of D- and L-2-Hydroxyglutaric Acidemias

Pediatric Research ◽

10.1203/00006450-199309000-00007 ◽

1993 ◽

Vol 34 (3) ◽

pp. 277-280 ◽

Author(s):

K M Gibson ◽

H J Ten Brink ◽

D S M Schor ◽

R M Kok ◽

A H Bootsma ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Isotope Dilution ◽

Isotope Dilution Analysis ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution ◽

Hydroxyglutaric Acid

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Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography

Clinica Chimica Acta ◽

10.1016/0009-8981(87)90283-x ◽

1987 ◽

Vol 168 (2) ◽

pp. 143-152 ◽

Author(s):

Robert M. Kok ◽

Lidie Kaster ◽

Ad P.J.M. de Jong ◽

Bweetien Poll-Thé ◽

Jean-Marie Saudubray ◽

...

Keyword(s):

Cerebrospinal Fluid ◽

Stable Isotope ◽

Amniotic Fluid ◽

Electron Capture ◽

Isotope Dilution ◽

Negative Ion ◽

Isotope Dilution Analysis ◽

Mass Fragmentography ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution

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Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid

Clinica Chimica Acta ◽

10.1016/0009-8981(84)90220-1 ◽

1984 ◽

Vol 143 (2) ◽

pp. 123-133 ◽

Author(s):

Cornelis Jakobs ◽

Lawrence Sweetman ◽

William L. Nyhan ◽

Larry Gruenke ◽

J.Cymerman Craig ◽

...

Keyword(s):

Stable Isotope ◽

Amniotic Fluid ◽

Isotope Dilution ◽

Orotic Acid ◽

Isotope Dilution Analysis ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution

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Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

Biological Mass Spectrometry ◽

10.1002/bms.1200190207 ◽

1990 ◽

Vol 19 (2) ◽

pp. 89-93 ◽

Author(s):

K. M. Gibson ◽

S. Aramaki ◽

L. Sweetman ◽

W. L. Nyhan ◽

D. C. DeVivo ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Stable Isotope ◽

Isotope Dilution ◽

Accurate Method ◽

Isotope Dilution Analysis ◽

Hydroxybutyric Acid ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution

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Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)41881-4 ◽

1992 ◽

Vol 33 (1) ◽

pp. 41-47

Author(s):

HJ ten Brink ◽

F Stellaard ◽

CM van den Heuvel ◽

RM Kok ◽

DS Schor ◽

...

Keyword(s):

Stable Isotope ◽

Isotope Dilution ◽

Phytanic Acid ◽

Negative Ion ◽

Isotope Dilution Analysis ◽

Mass Fragmentography ◽

Pristanic Acid ◽

Peroxisomal Disorders ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution

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