Nicola Brunetti-Pierri

Summary

Affiliation: Telethon Institute of Genetics and Medicine
Country: Italy

Publications

  1. pmc Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers
    Nunzia Pastore
    Telethon Institute of Genetics and Medicine Naples, Italy
    Autophagy 9:1094-6. 2013
  2. pmc Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency
    Nunzia Pastore
    Telethon Institute of Genetics and Medicine, Naples, Italy
    EMBO Mol Med 5:397-412. 2013
  3. pmc Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:102-7. 2011
  4. pmc MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus
    Masataka Suzuki
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 21:325-36. 2010
  5. pmc Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 24:761-5. 2013
  6. pmc Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad
    Francesco Vetrini
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 18:1339-45. 2010
  7. pmc Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 20:1863-70. 2012
  8. ncbi request reprint Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 15:732-40. 2007
  9. pmc Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B
    Nicola Brunetti-Pierri
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030 77030, USA
    Hum Gene Ther 20:479-85. 2009
  10. ncbi request reprint Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Ther 12:99-106. 2005

Detail Information

Publications56

  1. pmc Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers
    Nunzia Pastore
    Telethon Institute of Genetics and Medicine Naples, Italy
    Autophagy 9:1094-6. 2013
    ..Moreover, this study suggests that TFEB-mediated cellular clearance may have broad applications for therapy of human disorders due to intracellular accumulation of toxic proteins. ..
  2. pmc Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency
    Nunzia Pastore
    Telethon Institute of Genetics and Medicine, Naples, Italy
    EMBO Mol Med 5:397-412. 2013
    ..This study may pave the way towards applications of TFEB gene transfer for treatment of a wide spectrum of human disorders due to intracellular accumulation of toxic proteins...
  3. pmc Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:102-7. 2011
    ....
  4. pmc MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus
    Masataka Suzuki
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 21:325-36. 2010
    ....
  5. pmc Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 24:761-5. 2013
    ..3-111-fold above baseline values. These results will provide important information for a more informed risk:benefit assessment before clinical application of HDAd...
  6. pmc Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad
    Francesco Vetrini
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 18:1339-45. 2010
    ..These results suggest that VIP can improve the therapeutic index of HDAd by increasing hepatocyte transduction efficiency while reducing cytokine and chemokine expression following intravascular delivery of HDAd...
  7. pmc Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 20:1863-70. 2012
    ..Five of six animals developed inhibitors to hFIX. These results provide important information in assessing the clinical utility of HDAd for hemophilia B gene therapy...
  8. ncbi request reprint Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 15:732-40. 2007
    ..Using a low, clinically relevant vector dose, this minimally invasive method results in high-efficiency hepatic transduction with minimal toxicity and stable long-term transgene expression for at least 413 days...
  9. pmc Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B
    Nicola Brunetti-Pierri
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030 77030, USA
    Hum Gene Ther 20:479-85. 2009
    ..Furthermore, these variants may also be valuable for recombinant FIX protein replacement therapy...
  10. ncbi request reprint Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Ther 12:99-106. 2005
    ..These results further suggest that the safety and efficacy of HDAd-mediated, liver-directed gene therapy may be improved if the vector could be preferentially, if not exclusively, targeted to liver...
  11. pmc Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase
    Nicola Brunetti-Pierri
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Hum Genet 71:952-8. 2002
    ..Sequence analysis of the SC5D gene in the patient's DNA, showing the presence of two missense mutations (R29Q and G211D), confirmed that the patient is affected by a novel defect of cholesterol biosynthesis...
  12. ncbi request reprint Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 17:391-404. 2006
    ..Importantly, stable, high levels of transgene expression were obtained for at least 665 days for one baboon and for at least 560 days for two baboons with no evidence of long-term toxicity...
  13. pmc Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Gene Med 10:890-6. 2008
    ..Strategies for reducing the dose necessary for disease correction are highly desirable because HDAd acute toxicity is clearly dose-dependent...
  14. pmc Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates
    Nicola Brunetti-Pierri
    1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Mol Ther 17:327-33. 2009
    ..These results suggest that our minimally invasive method of delivery can significantly improve the vector's therapeutic index and may be a first step toward clinical application of HDAd for liver-directed gene therapy...
  15. pmc SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors
    Pasquale Piccolo
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Mol Ther 21:767-74. 2013
    ....
  16. pmc Helper-dependent adenoviral vectors for liver-directed gene therapy
    Nicola Brunetti-Pierri
    Telethon Institute of Genetics and Medicine, Naples 80131, Italy
    Hum Mol Genet 20:R7-13. 2011
    ..These strategies have yielded encouraging results with the potential for clinical translation...
  17. ncbi request reprint Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 16:811-20. 2005
    ..The results of this study highlight both the potential benefit and the risk associated with systemic intravascular delivery of high-dose HDAd for liver-directed gene therapy...
  18. ncbi request reprint Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors
    Vincenzo Cerullo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 15:378-85. 2007
    ..The identification of the components of the innate immune response to adenovirus will facilitate the development of combinatorial therapy directed at increasing the maximal tolerated dose of systemically delivered adenoviral vectors...
  19. pmc Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria
    Sandesh C S Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 90:836-46. 2012
    ..Hence, NO supplementation should be investigated for the long-term treatment of this condition...
  20. pmc Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 22:483-8. 2011
    ....
  21. doi request reprint Sustained reduction of hyperbilirubinemia in Gunn rats after adeno-associated virus-mediated gene transfer of bilirubin UDP-glucuronosyltransferase isozyme 1A1 to skeletal muscle
    Nunzia Pastore
    Telethon Institute of Genetics and Medicine, 80131 Naples, Italy
    Hum Gene Ther 23:1082-9. 2012
    ..AAV-mediated muscle directed gene therapy has potential for the treatment of patients with Crigler-Najjar syndrome type 1...
  22. ncbi request reprint Progress towards the clinical application of helper-dependent adenoviral vectors for liver and lung gene therapy
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza T619, Houston, TX 77030, USA
    Curr Opin Mol Ther 8:446-54. 2006
    ..Studies highlighting the tremendous potential of these vectors are reviewed, together with some important obstacles that will need to be addressed before clinical utility...
  23. pmc Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mutat 29:E150-72. 2008
    ....
  24. ncbi request reprint Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis
    Rosa Ferriero
    Telethon Institute of Genetics and Medicine, Naples 80131, Italy
    Sci Transl Med 5:175ra31. 2013
    ....
  25. ncbi request reprint Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Avenue, Houston, TX 77030, USA
    Curr Gene Ther 9:329-40. 2009
    ..Progress towards liver and lung directed gene therapy with HDAd as well as the current obstacles facing human applications and possible strategies to overcome these obstacles are discussed...
  26. pmc Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function
    Vincenzo Belcastro
    Telethon Institute of Genetics and Medicine, Via P Castellino, Naples, Italy
    Nucleic Acids Res 39:8677-88. 2011
    ..We experimentally verified that granulin precursor (GRN) gene, whose mutations cause frontotemporal lobar degeneration, is involved in lysosome function. We have developed an online tool to explore the human and mouse gene networks...
  27. pmc WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype
    Carlos A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 158:2917-24. 2012
    ..Detailed genotype-phenotype information is provided as well as discussion of previously reported cases...
  28. pmc Phenylbutyrate therapy for maple syrup urine disease
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 20:631-40. 2011
    ..Phenylbutyrate treatment may be a valuable treatment for reducing the plasma levels of neurotoxic BCAA and their corresponding BCKA in a subset of MSUD patients and studies of its long-term efficacy are indicated...
  29. doi request reprint 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Am J Med Genet A 146:1933-41. 2008
    ..The potential role of the genes within the deleted region in the pathogenesis of these various phenotypic abnormalities is discussed...
  30. ncbi request reprint Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Children s Nutritional Research Center, Baylor College of Medicine, Houston, TX 77030, USA
    J Nutr 134:2775S-2782S; discussion 2796S-2797S. 2004
    ....
  31. doi request reprint Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 146:2804-9. 2008
    ..The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome...
  32. ncbi request reprint Inborn errors of metabolism: the flux from Mendelian to complex diseases
    Brendan Lanpher
    Department of Molecular and Human Genetics, Baylor College of Medicine One Baylor Plaza, Houston, Texas 77030, USA
    Nat Rev Genet 7:449-60. 2006
    ..Ultimately, this integration will lead to new diagnostic and therapeutic approaches that are focused on the manipulation of these pathways...
  33. doi request reprint Autosomal dominant Ménétrier-like disease
    Caterina Strisciuglio
    Department of Pediatrics, Federico II University of Naples, Naples, Italy
    J Pediatr Gastroenterol Nutr 55:717-20. 2012
    ..Familial occurrence of Ménétrier disease is rare and has been reported only in few instances...
  34. pmc Discovery of drug mode of action and drug repositioning from transcriptional responses
    Francesco Iorio
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Proc Natl Acad Sci U S A 107:14621-6. 2010
    ..Our approach was implemented in a tool (Mode of Action by NeTwoRk Analysis, MANTRA, http://mantra.tigem.it)...
  35. doi request reprint Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder
    Gaetano Terrone
    From the Departments of Pediatrics G T, N B P, G P, A R, G A and Molecular Medicine and Medical Biotechnologies M R, G F, University of Naples Federico II CEINGE Biotecnologie Avanzate s c ar l M R, C C, E S, F S, G F and IRCCS Fondazione SDN F S, Naples, Italy
    Neurology 82:e1-4. 2014
    ..We discuss the diagnosis of MTPD and review the prognosis and treatments. ..
  36. doi request reprint GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 94:391-6. 2008
    ..This review gives an overview of the clinical and molecular findings in patients with GM(1) gangliosidosis. Furthermore, it describes therapeutic approaches which are currently under investigation in animal models of the disease...
  37. doi request reprint A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome
    Gaetano Terrone
    Department of Translational Medicine Section of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 164:190-3. 2014
    ..This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS...
  38. ncbi request reprint X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability
    Nicola Brunetti-Pierri
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 117:164-8. 2003
    ..One patient showed an insertion (T616ins). In three patients we found deletions of the ARSE gene: in one the deletion involved only the 3' end of the gene, while in two the ARSE gene was completely deleted...
  39. ncbi request reprint Gene therapy for inborn errors of liver metabolism
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 86:13-24. 2005
    ..As with any therapy, it will be the balance of this index and the disease natural history which will determine the future of clinical studies and their outcomes...
  40. ncbi request reprint Parkes Weber syndrome occurring in a family with capillary malformations
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Dysmorphol 16:167-71. 2007
    ..These observations reinforce the suggestions that Parkes Weber syndrome and capillary malformations may share a common pathogenetic pathway...
  41. ncbi request reprint Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
    Jonathan S Berg
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Genet Med 9:427-41. 2007
    ..23), including two children who inherited the microduplication from one of their parents, to more fully characterize this emerging microduplication syndrome...
  42. pmc Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 152:1825-31. 2010
    ....
  43. ncbi request reprint Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Inherit Metab Dis 30:823. 2007
    ....
  44. doi request reprint Dilation of the aortic root in mitochondrial disease patients
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Mol Genet Metab 103:167-70. 2011
    ..The mechanism(s) involved in the pathogenesis of this complication are unknown and may be potentially implicated also in the pathogenesis of other more common etiologies of aortic aneurysmal disease...
  45. ncbi request reprint Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 15:35-46. 2004
    ....
  46. ncbi request reprint Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, and Department of Pathology, Texas Children s Hospital, 6621 Fannin St MC2 2261, Houston, TX 77030, USA
    Ann Clin Lab Sci 38:386-9. 2008
    ..This case suggests that abnormal function of ABCC8 may result in aberrant pancreatic development...
  47. pmc Assessment of bone mineral status in children with Marfan syndrome
    Monica Grover
    Department of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Houston, Texas 77030 3411, USA
    Am J Med Genet A 158:2221-4. 2012
    ..Further, larger longitudinal studies are required to evaluate the natural history, incidence of fractures, and effects of pharmacological therapy...
  48. pmc Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Nat Genet 40:1466-71. 2008
    ..These phenotypes are subject to incomplete penetrance and variable expressivity...
  49. ncbi request reprint Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hepatology 46:1218-27. 2007
    ..We report 4 cases from 3 ethnically diverse families with MPV17 mutations. Importantly, 2 of these cases presented with isolated liver failure during infancy without notable neurologic dysfunction...
  50. doi request reprint Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    J Child Neurol 23:73-8. 2008
    ..Histologically, no significant alterations were found in axons, but there was evidence of redundant and inappropriately folded myelin, which is a feature attributed to disturbed axon-glial interactions...
  51. ncbi request reprint Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review
    Massimiliano Rossi
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 132:144-51. 2005
    ..Periodic liver function evaluations are recommended in these patients...
  52. pmc Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations
    Nicola Brunetti-Pierri
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 146:1230-3. 2008
  53. pmc Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 98:195-7. 2009
    ..The intriguing link between nitric oxide (NO) production and hypertension lead us to hypothesize that the deficiency of endogenously synthesized arginine caused by ASL deficiency is responsible for the increased blood pressure...
  54. pmc Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy
    Gerarda Cappuccio
    Department of Paediatrics, University of Naples Federico II, Via S Pansini, 5, 80131, Naples, Italy
    JIMD Rep 9:113-6. 2013
    ..This experience raises a potential concern about the appropriate dose of amitriptyline in patients with MLD...
  55. doi request reprint 30-year follow-up of a patient with classic citrullinemia
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 106:248-50. 2012
    ....