265 results on '"Lichter-Konecki, Uta"'
Search Results
52. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
53. The phenylketonuria G272X haplotype 7 mutation in European populations
54. 38 - Inborn Errors of Urea Synthesis
55. Haplotype distribution and mutations at the PAH locus in Croatia
56. BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS
57. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
58. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
59. Inborn Errors of Metabolism with Cognitive Impairment
60. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years
61. Novel mutations in RMND1 presenting with dystonia and seizures (P4.168)
62. The Pennsylvania newborn screening experience for Pompe disease
63. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
64. RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene
65. Phenylketonuria Scientific Review Conference:State Of The Science And Future Research Needs
66. Defects of the urea cycle
67. Phenylketonuria (PKU): A problem solved?
68. Mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder
69. Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population
70. DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population
71. What is in the can? The dilemma with dietary supplements
72. Menkes disease in affected females: The clinical disease spectrum
73. Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate
74. Phenylketonuria Scientific Review Conference: State of the science and future research needs
75. Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes
76. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
77. Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias
78. A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
79. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
80. Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate
81. MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency
82. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
83. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
84. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH
85. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases
86. Cross-sectional multicenter study of patients with urea cycle disorders in the United States
87. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
88. Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions
89. Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasisin vivo
90. The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients
91. Human Phenylalanine Hydroxylase Gene Expression in Kidney and Other Nonhepatic Tissues
92. Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis
93. Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population
94. Fine Mapping of the Cystinosis Gene Using an Integrated Genetic and Physical Map of a Region within Human Chromosome Band 17p13
95. Genotype-phenotype correlations in phenylketonuria
96. Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo.
97. PKU and NON-PKU Hyperphenylalaninemia: Differentiation, Indication for Therapy and Therapeutic Results.
98. Phenylketonuria.
99. Changes in the Eeg Background Activity of Children with Acute Lymphoblastic Leukemia During Cytotoxic Therapy.
100. Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-l-glutamate.
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