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PubPharm (211)
101
Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting
enthalten in:
Journal of the American Society of Nephrology
| 2014
von
Ferrè, S.
|
de Baaij, J.
|
Ferreira, P.
| +8
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102
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
enthalten in:
Journal of inherited metabolic disease
| 2013
von
Wortmann, S.
|
Kluijtmans, L.
|
Rodenburg, R.
| +16
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103
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
enthalten in:
Journal of inherited metabolic disease
| 2013
von
van de Ven, S.
|
Gardeitchik, T.
|
Kouwenberg, D.
| +3
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104
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
enthalten in:
Journal of inherited metabolic disease
| 2013
von
van de Ven, S.
|
Gardeitchik, T.
|
Kouwenberg, D.
| +3
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105
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
enthalten in:
Journal of inherited metabolic disease
| 2013
von
van de Ven, S.
|
Gardeitchik, T.
|
Kouwenberg, D.
| +3
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106
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
enthalten in:
Journal of inherited metabolic disease
| 2013
von
Mendes, M.
|
Colaço, H.
|
Smith, D.
| +10
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107
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
enthalten in:
Journal of inherited metabolic disease
| 2013
von
Mendes, M.
|
Colaço, H.
|
Smith, D.
| +10
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108
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
enthalten in:
Journal of inherited metabolic disease
| 2013
von
Mendes, M.
|
Colaço, H.
|
Smith, D.
| +10
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109
Does the Interaction between Maternal Folate Intake and the Methylenetetrahydrofolate Reductase Polymorphisms Affect the Risk of Cleft Lip with or without Cleft Palate?
enthalten in:
American journal of epidemiology
| 2013
von
van Rooij, I.
|
Vermeij-Keers, C.
|
Kluijtmans, L.
| +6
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110
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
enthalten in:
Journal of inherited metabolic disease
| 2013
von
Wortmann, S.
|
Kluijtmans, L.
|
Rodenburg, R.
| +16
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Journal of inherited metabolic disease
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Atherosclerosis
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JIMD reports
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Journal of molecular medicine
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Nature genetics
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Biochimica et biophysica acta
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European journal of human genetics : EJHG
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Biomarkers
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0LVT1QZ0BA
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Homocysteine
14
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11
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935E97BOY8
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Canavan disease
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Cystathionine beta-Synthase
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EC 1.5.1.20
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Folic Acid
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Methylenetetrahydrofolate Reductase (NADPH2)
8
P6YC3EG204
8
Vitamin B 12
7
Comparative Study
6
Intellectual Disability
6
Methionine
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2010-2019
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