440 results on '"Barshop, Bruce A."'
Search Results
52. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
53. Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency
54. Carnitine palmitoyl transferase II deficiency, lethal neonatal
55. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
56. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency
57. Introduction to disorders of fatty acid oxidation
58. Propionic acidemia
59. Maple syrup urine disease (branched-chain oxoaciduria)
60. Biogenic amines
61. Introduction to the disorders of purine and pyrimidine metabolism
62. Long-chain L-3-hydroxyacyl-CoA dehydrogenase – (trifunctional protein) deficiency
63. Carnitine transporter deficiency
64. Very long-chain acyl-CoA dehydrogenase deficiency
65. Atlas of Inherited Metabolic Diseases
66. Galactosemia
67. Glycogenosis type I – von Gierke disease
68. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria
69. Short-chain acyl CoA dehydrogenase (SCAD) deficiency
70. Serine deficiencies
71. Lesch–Nyhan disease and variants
72. Ornithine transcarbamylase deficiency
73. Introduction to lactic acidemias
74. Neurodegeneration, ataxia, and retinitis pigmentosa (NARP)
75. Pyruvate carboxylase deficiency
76. 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria
77. Introduction to hyperammonemia and disorders of the urea cycle
78. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency
79. Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria
80. Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
81. The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency
82. Methylmalonic acidemia
83. Glycogen storage diseases: introduction
84. α1-Antitrypsin deficiency
85. Fructose-1,6-diphosphatase deficiency
86. Adenine phosphoribosyltransferase (APRT) deficiency
87. Dairy Fat Intake, Plasma C15: 0 and Plasma Iso-C17: 0 are Inversely Associated with Liver Fat in Children
88. Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
89. Time before isolating cystinotic leukocytes affects reliability of cystine determination
90. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria
91. Phase 1/2 clinical trial of autologous hematopoietic stem and progenitor cell (HSPC) gene therapy for cystinosis
92. P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results
93. Biotin Disorders
94. Obituary for Dr. Lawrence “Larry” Sweetman, PhD , ABMG (1942–2022)
95. Metabolism of 1-13C-Propionate In Vivo in Patients with Disorders of Propionate Metabolism
96. Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys
97. In memoriam: Jerry Allan Schneider, 1937–2021
98. Disorders of Valine-Isoleucine Metabolism
99. METABOLOMIC STUDIES IN CORTICAL BRAIN ORGANOIDS
100. eP235: Interim results of the Vigilan observational study: clinical characteristics of creatine transporter deficiency
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