valine and Deficiency, Glucosephosphatase

valine has been researched along with Deficiency, Glucosephosphatase in 4 studies

Research

Studies (4)

Timeframe	Studies, this research(%)	All Research%
pre-1990	1 (25.00)	18.7374
1990's	1 (25.00)	18.2507
2000's	2 (50.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Bandsma, RH; Boer, T; Kuipers, F; Prinsen, BH; Rake, JP; Reijngoud, DJ; Smit, GP; van Der Velden, Mde S	1
Isam, J; Moses, SW; Parvari, R	1
Elleder, M; Francová, H; Hrabincová, E; Kozák, L; Pesková, K; Stastná, S	1
Porath, U; Schreier, K	1

Reviews

1 review(s) available for valine and Deficiency, Glucosephosphatase

Article	Year
[Congenital metabolic acidosis in the postnatal period]. Deutsche medizinische Wochenschrift (1946), 1978, Jun-02, Volume: 103, Issue:22 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; Glycogen Storage Disease Type I; Humans; Hyperglycemia; Infant, Newborn; Isoleucine; Ketosis; Lactates; Leucine; Leukoencephalitis, Acute Hemorrhagic; Methylmalonic Acid; Propionates; Syndrome; Thiamine; Valerates; Valine	1978

Article

Year

[Congenital metabolic acidosis in the postnatal period].

Deutsche medizinische Wochenschrift (1946), 1978, Jun-02, Volume: 103, Issue:22

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; Glycogen Storage Disease Type I; Humans; Hyperglycemia; Infant, Newborn; Isoleucine; Ketosis; Lactates; Leucine; Leukoencephalitis, Acute Hemorrhagic; Methylmalonic Acid; Propionates; Syndrome; Thiamine; Valerates; Valine

1978

Trials

1 trial(s) available for valine and Deficiency, Glucosephosphatase

Article	Year
Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatric research, 2008, Volume: 63, Issue:6 Topics: Acetates; Adult; Case-Control Studies; Cholesterol; Female; Glycerol; Glycogen Storage Disease Type I; Humans; Hyperlipidemias; Infusions, Parenteral; Kinetics; Lipogenesis; Lipoproteins, IDL; Lipoproteins, VLDL; Male; Particle Size; Valine	2008

Article

Year

Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a.

Pediatric research, 2008, Volume: 63, Issue:6

Topics: Acetates; Adult; Case-Control Studies; Cholesterol; Female; Glycerol; Glycogen Storage Disease Type I; Humans; Hyperlipidemias; Infusions, Parenteral; Kinetics; Lipogenesis; Lipoproteins, IDL; Lipoproteins, VLDL; Male; Particle Size; Valine

2008

Other Studies

2 other study(ies) available for valine and Deficiency, Glucosephosphatase

Article	Year
Glycogen storage disease type 1a in three siblings with the G270V mutation. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:2 Topics: Child; Exons; Female; Glucose-6-Phosphatase; Glycine; Glycogen Storage Disease Type I; Humans; Infant; Male; Point Mutation; Valine	1999
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5. Human mutation, 2000, Volume: 16, Issue:1 Topics: Alanine; Amino Acid Substitution; Asparagine; Czech Republic; Glucose-6-Phosphatase; Glycogen Storage Disease Type I; Humans; Lysine; Mutation; Sequence Deletion; Slovakia; Valine	2000

Article

Year

Glycogen storage disease type 1a in three siblings with the G270V mutation.

Journal of inherited metabolic disease, 1999, Volume: 22, Issue:2

Topics: Child; Exons; Female; Glucose-6-Phosphatase; Glycine; Glycogen Storage Disease Type I; Humans; Infant; Male; Point Mutation; Valine

1999

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.

Human mutation, 2000, Volume: 16, Issue:1

Topics: Alanine; Amino Acid Substitution; Asparagine; Czech Republic; Glucose-6-Phosphatase; Glycogen Storage Disease Type I; Humans; Lysine; Mutation; Sequence Deletion; Slovakia; Valine

2000