et al., eds. GeneReviews. http://www.ncbi.nlm.nih.gov/pubmed/20301309 (accessed July 7, 2020).138 138. Huijing F, Warren RJ, McLeod AG. Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I‐cell disease). Clin Chim Acta 1973; 44:453.
139 139. Poenaru L, Mezard C, Akli S, et al. Prenatal diagnosis of mucolipidosis type II on first‐trimester amniotic fluid. Prenat Diagn 1990; 10:231.
140 140. Friedland J, Perle G, Saifer A, et al. Screening for Tay‐Sachs disease in utero using amniotic fluid. Proc Soc Exp Biol Med 1971; 136:1297.
141 141. O'Brien JS, Okada S, Fillerup DL, et al. Tay‐Sachs disease: prenatal diagnosis. Science 1971; 172:61.
142 142. Desnick RJ, Krivit W, Sharp HL. In utero diagnosis of Sandhoff's disease. Biochem Biophys Res Commun 1973; 51:20.
143 143. Potier M, Boire G, Dallaire L, et al. N‐Acetyl‐betahexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses. Clin Chim Acta 1977; 76:309.
144 144. Guetta E, Peleg L. Rapid detection of fetal Mendelian disorders: Tay‐Sachs disease. Methods Mol Biol 2008; 444:147.
145 145. Dallaire L, Gagnon M, Kinch RA. Fetal amino acid metabolism. Clin Res 1971; 19:766.
146 146. Jauniaux E, Gulbis B, Gerloo E. Free amino acids in human fetal liver and fluids at 12–17 weeks of gestation. Hum Reprod 1999; 14:1638.
147 147. Wenstrom KD, Johanning GL, Owen J, et al. Role of amniotic fluid homocysteine level and of fetal 5,10‐methylenetetrahydrafolate reductase genotype in the etiology of neural tube defects. Am J Med Genet 2000; 90:12.
148 148. Jauniaux E, Sherwood RA, Jurkovic D, et al. Amino acid concentrations in human embryological fluids. Hum Reprod 1994; 9:1175.
149 149. Jauniaux E, Gulbis B, Gerlo E, et al. Free amino acid distribution inside the first trimester human gestational sac. Early Hum Dev 1998; 51:159.
150 150. Mesavage WC, Suchy SF, Weiner DL, et al. Amino acids in amniotic fluid in the second trimester of gestation. Pediatr Res 1985; 19:1021.
151 151. Dallaire L, Potier M, Melancon SB, et al. Feto‐maternal amino acid metabolism. J Obstet Gynaecol Br Commonw 1974; 81:761.
152 152. Kamoun P, Parvy P, Pham Dinh D, et al. Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia. Prenat Diagn 1983; 3:53.
153 153. Chadefaux‐Vekemans B, Rabier D, Chabli A, et al. Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid. Prenat Diagn 2002; 22:456.
154 154. Kleijer WJ, Blom W, Huijmans JG, et al. Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies. Prenat Diagn 1984; 4:113.
155 155. Kleijer WJ, Garritsen VH, van der Sterre ML, et al. Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. Prenat Diagn 2006; 26:242.
156 156. Northrup H, Beaudet AL, O'Brien WE. Prenatal diagnosis of citrullinaemia: review of a 10‐year experience including recent use of DNA analysis. Prenat Diagn 1990; 10:771.
157 157. Pettit BR, King GS, Blau K. The analysis of hexitols in biological fluid by selected ion monitoring. Biomed Mass Spectrom 1980; 7:309.
158 158. Elsas LJ, Lai K, Saunders CJ, et al. Functional analysis of the human galactose‐1‐phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. Mol Genet Metab 2001; 72:297.
159 159. Coude M, Chadefaux B, Rabier D, et al. Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias. Clin Chim Acta 1990; 187:329.
160 160. Jakobs C, Ten Brink HJ, Stellaard F. Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future. Prenat Diagn 1990; 10:265.
161 161. Lindblad B, Lindstedt S, Steen G. On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 1977; 74:4641.
162 162. Gagne R, Lescault A, Grenier A, et al. Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid. Prenat Diagn 1982; 2:185.
163 163. Poudrier J, Lettre F, St‐Louis M, et al. Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid. Prenat Diagn 1999; 19:61.
164 164. Maydan G, Andresen BS, Madsen PP, et al. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. J Inherit Metab Dis 2006; 29:620.
165 165. Antonowicz I, Chang SK, Grand RJ. Development and distribution of lysosomal enzymes and disaccharidases in human fetal intestine. Gastroenterology 1974; 67:51.
166 166. Morin PR, Potier M, Dallaire L, et al. Prenatal detection of the autosomal recessive type of polycystic kidney disease by trehalase assay in amniotic fluid. Prenat Diagn 1981; 1:75.
167 167. Morin PR, Potier M, Dallaire L, et al. Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses. Clin Genet 1980; 18:217.
168 168. Claass AH, van Diggelen OP, Hauri HP, et al. Characteristics of maltase activity in amniotic fluid. Clin Chim Acta 1985; 145:275.
169 169. Potier M, Morin PR, Melancon SB, et al. Differential stabilities of fetal intestinal disaccharidases determine their relative amounts released into amniotic fluid. Biol Neonate 1984; 45:257.
170 170. Potier M, Cousineau J, Michaud L, et al. Fetal intestinal microvilli in human amniotic fluid. Prenat Diagn 1986; 6:429.
171 171. Jalanko H, Rapola J, Lehtonen E. Particulate fraction in amniotic fluid at second trimester. J Clin Pathol 1985; 38:1065.
172 172. Morin PR, Melancon SB, Dallaire L, et al. Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (disaccharidases, alkaline phosphatase, and glutamyltransferase) in amniotic fluid. Am J Med Genet 1987; 26:405.
173 173. Morin PR, Potier M, Dallaire L, et al. Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid. Prenat Diagn 1984; 4:257.
174 174. Poenaru L, Vinet MC, Dreyfus JC. Human amniotic fluid alpha‐glucosidase. Clin Chim Acta 1981; 117:53.
175 175. Elsliger MA, Dallaire L, Potier M. Fetal intestinal and renal origins of trehalase activity in human amniotic fluid. Clin Chim Acta 1993; 216:91.
176 176. Dallaire L, Perreault G. Hereditary multiple intestinal atresia. Birth Defects Orig Artic Ser 1974; 10:259.
177 177. Garel C, Dreux S, Philippe‐Chomette P, et al. Contribution of fetal magnetic resonance imaging and amniotic fluid digestive enzyme assays to the evaluation of gastrointestinal tract abnormalities. Ultrasound Obstet Gynecol 2006; 28:282.
178 178. Muller F, Dreux S, Vaast P, et al. Prenatal diagnosis of megacystis‐microcolon‐intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis. Prenat Diagn 2005; 25:203.
179 179.
