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Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Guilmatre A, et al. Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296. Hum Mutat. 2010. PMID: 20524212
Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline Dehydrogenase gene (PRODH) at 22q11. ...Our results suggest that PRODH mutations lead to a decreased POX activity or aff …
Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterat …
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Kuhara T. Kuhara T. J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Aug;855(1):42-50. doi: 10.1016/j.jchromb.2007.03.031. Epub 2007 Mar 31. J Chromatogr B Analyt Technol Biomed Life Sci. 2007. PMID: 17467347 Review.
In this review, chemical diagnoses of hyperphenylalaninemia, phenylketonuria, hyperprolinemia, and lactic acidemia, and the differential diagnosis of beta-ureidopropionase deficiency and primary hyperammonemias including ornithine transcarbamylase deficiency and carbamoylp …
In this review, chemical diagnoses of hyperphenylalaninemia, phenylketonuria, hyperprolinemia, and lactic acidemia, and the different …
Improving patient tolerability in immunoglobulin treatment: focus on stabilizer effects.
Sun A, Teschner W, Yel L. Sun A, et al. Expert Rev Clin Immunol. 2013 Jun;9(6):577-87. doi: 10.1586/eci.13.39. Expert Rev Clin Immunol. 2013. PMID: 23730887 Review.
Details of patient considerations with respect to excipient content are outlined focusing on patients with renal insufficiency, diabetes, corn allergy, hereditary fructose intolerance, inborn errors of proline metabolism, DiGeorge Syndrome and neuropsychiatric disorders associate …
Details of patient considerations with respect to excipient content are outlined focusing on patients with renal insufficiency, diabetes, co …