Part 6, Reference for Chapter 81: Inherited Metabolic Diseases
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- 26 et al. Multiple symmetrical lipomatosis – a mitochondrial disorder of brown fat. Mitochondrion 2013;13(4):269–76. Cross Ref link Pubmed link , , ,
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- 31 Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998;75(2):179–85. Cross Ref link Pubmed link , , , et al.
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- 40 Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. J Pediatr 1995;126(2):266–9. Cross Ref link Pubmed link , , , , .
- 41 et al. Natural history of alkaptonuria. N Engl J Med 2002;347(26):2111–21. Cross Ref link Pubmed link , , ,
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- 44 A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Am J Med Genet B Neuropsychiatr Genet 2010;153B(1):46–56. Pubmed link , , , et al.
- 45 Prolidase deficiency and systemic lupus erythematosus. Arch Dis Child 1997;76(5):441–4. Cross Ref link Pubmed link , , , , , .
- 46 Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med 2011;17(12):1619–26. Cross Ref link Pubmed link , , , et al.
- 47 Trichorrhexis nodosa secondary to argininosuccinicaciduria. Pediatr Dermatol 2007;24(1):25–7. Cross Ref link Pubmed link , , .
- 48 et al. The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet 1987;40(5):401–12. Pubmed link , , ,
- 49 Hereditary pellagra‐like skin rash with temporary cerebellar ataxia, constant renal amino‐aciduria, and other bizarre biochemical features. Lancet 1956;271(6940):421–8. Cross Ref link Pubmed link , , , , .
- 50 et al. Smith‐Lemli‐Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet 1998;35(7):558–65. Cross Ref link Pubmed link , , ,
- 51 The Smith‐Lemli‐Opitz syndrome. J Med Genet 2000;37(5):321–35. Cross Ref link Pubmed link , .
- 52 Cholesterol supplementation objectively reduces photosensitivity in the Smith‐Lemli‐Opitz syndrome. Br J Dermatol 2001;144(1):143–5. Cross Ref link Pubmed link , , .
- 53 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999;22(2):175–7. Cross Ref link Pubmed link , , , et al.
- 54 Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper‐IgD Study Group. Medicine (Baltimore) 1994;73(3):133–44. Cross Ref link Pubmed link , , .
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- 56 et al. Loss of dopamine phenotype among midbrain neurons in Lesch‐Nyhan disease. Ann Neurol 2014;76(1):95–107. Cross Ref link Pubmed link , , ,
- 57 A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561–70. Cross Ref link Pubmed link , .
- 58 Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. Pediatr Dermatol 2004;21(3):231–5. Cross Ref link Pubmed link , , , .
- 59 Biotinidase deficiency: a survey of 10 cases. Arch Dis Child 1988;63(10):1244–9. Cross Ref link Pubmed link , , , .
- 60 Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985;18(5):614–17. Cross Ref link Pubmed link , , , , , .
- 61 Clinical and laboratory diagnosis of acrodermatitis enteropathica. Eur J Pediatr 1989;149(1):2–8. Cross Ref link Pubmed link .
- 62 Zinc therapy of acrodermatitis enteropathica. N Engl J Med 1975;292(17):879–82. Cross Ref link Pubmed link , .
- 63 Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am J Clin Nutr 1998;67(Suppl. 5):S1029–34. .
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- 73 Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol 2010;130:652–60. Cross Ref link Pubmed link .
- 74 An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2005;14:385–90. Cross Ref link Pubmed link , , , .
- 75 A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 2007;117:2684–91. Cross Ref link Pubmed link , , , et al.
- 76 Mutations in GALNT3, encoding a protein involved in O‐linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004;36:579–81. Cross Ref link Pubmed link , , , et al.
- 77 A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet 2006;79:759–64. Cross Ref link Pubmed link , , , et al.
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- 80 Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome. Biochem Biophys Res Commun 2009;383:245–51. Cross Ref link Pubmed link , , , et al.
- 81 Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF‐alpha responsive protein. J Invest Dermatol 2008;128:1423–9. Cross Ref link Pubmed link , , , et al.
- 82 Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. J Invest Dermatol 2011;131:662–9. Cross Ref link Pubmed link , , , et al.
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