glutamine and Abnormalities, Multiple

glutamine has been researched along with Abnormalities, Multiple in 3 studies

Research

Studies (3)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	2 (66.67)	29.6817
2010's	1 (33.33)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
de Koning, TJ	1
Hadzsiev, K; Kellermayer, R; Kestilä, M; Kosztolányi, G; Siitonen, HA	1
Adès, LC; Gilmour, E; Graf, N; Holme, SA; Maclean, K; Moss, C; Onikul, E; Scheffer, H; Smith, GH; Taylor, M; van Bokhoven, H	1

Reviews

1 review(s) available for glutamine and Abnormalities, Multiple

Article	Year
Amino acid synthesis deficiencies. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:4 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Brain Diseases; Central Nervous System; Fetal Growth Retardation; Glutamine; High-Throughput Nucleotide Sequencing; Humans; Ichthyosis; Limb Deformities, Congenital; Metabolic Diseases; Mice; Microcephaly; Proline; Serine	2017

Article

Year

Amino acid synthesis deficiencies.

Journal of inherited metabolic disease, 2017, Volume: 40, Issue:4

Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Brain Diseases; Central Nervous System; Fetal Growth Retardation; Glutamine; High-Throughput Nucleotide Sequencing; Humans; Ichthyosis; Limb Deformities, Congenital; Metabolic Diseases; Mice; Microcephaly; Proline; Serine

2017

Other Studies

2 other study(ies) available for glutamine and Abnormalities, Multiple

Article	Year
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. Archives of dermatology, 2005, Volume: 141, Issue:5 Topics: Abnormalities, Multiple; Adenosine Triphosphatases; Amino Acid Substitution; Arginine; Bone and Bones; Child; Cytosine; Diarrhea; DNA Helicases; Glutamine; Growth Disorders; Guanine; Humans; Joint Dislocations; Limb Deformities, Congenital; Male; Mutation; Mutation, Missense; Palate; Patella; Radius; RecQ Helicases; Rothmund-Thomson Syndrome; Syndrome; Thymine	2005
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? American journal of medical genetics. Part A, 2007, May-15, Volume: 143A, Issue:10 Topics: Abnormalities, Multiple; Adult; Arginine; Child, Preschool; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Ectodermal Dysplasia; Female; Fingers; Genotype; Glutamine; Humans; Infant; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins; Urination Disorders	2007

Article

Year

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

Archives of dermatology, 2005, Volume: 141, Issue:5

Topics: Abnormalities, Multiple; Adenosine Triphosphatases; Amino Acid Substitution; Arginine; Bone and Bones; Child; Cytosine; Diarrhea; DNA Helicases; Glutamine; Growth Disorders; Guanine; Humans; Joint Dislocations; Limb Deformities, Congenital; Male; Mutation; Mutation, Missense; Palate; Patella; Radius; RecQ Helicases; Rothmund-Thomson Syndrome; Syndrome; Thymine

2005

EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?

American journal of medical genetics. Part A, 2007, May-15, Volume: 143A, Issue:10

Topics: Abnormalities, Multiple; Adult; Arginine; Child, Preschool; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Ectodermal Dysplasia; Female; Fingers; Genotype; Glutamine; Humans; Infant; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins; Urination Disorders

2007