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1.
Carbamylphosphate synthetase-I deficiency in a newborn: survival after early diagnosis and therapy.
Raghavan, K; Chabra, S; Mondkar, J; Aiyar, R; Ambani, L M; Fernandez, A.
Indian Pediatr ; 1991 May; 28(5): 551-4
Article in English | IMSEAR | ID: sea-14026

Subject(s)
Amino Acid Metabolism, Inborn Errors/blood , Ammonia/blood , Carbamoyl-Phosphate Synthase (Ammonia)/deficiency , Combined Modality Therapy , Female , Humans , Infant, Newborn , Time Factors
2.
Pyruvicacidemia.
Tibrewala, V N; Ambani, L M; Shah, S B; Apte, B N.
Indian Pediatr ; 1990 Sep; 27(9): 974-6
Article in English | IMSEAR | ID: sea-14229

Subject(s)
Biotin/therapeutic use , Humans , Infant , Male , Pyruvate Carboxylase Deficiency Disease/diagnosis
3.
Prenatal diagnosis of Tay-Sachs disease.
Ambani, L M; Bhatia, R S; Shah, S B; Apte, B N.
Indian Pediatr ; 1989 Oct; 26(10): 1052-3
Article in English | IMSEAR | ID: sea-11025

Subject(s)
Adult , Child, Preschool , Chorionic Villi Sampling , Female , Fetal Diseases/diagnosis , Humans , Infant , Pregnancy , Tay-Sachs Disease/diagnosis
4.
Citrullinemia: early diagnosis & successful management of an otherwise lethal disorder.
Balsekar, M V; Ambani, L M; Bhatia, R S; Shah, S B; Apte, B N.
Indian Pediatr ; 1989 Jun; 26(6): 589-92
Article in English | IMSEAR | ID: sea-10690

Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Ammonia/blood , Arginine/administration & dosage , Argininosuccinate Synthase/deficiency , Citrulline/blood , Female , Humans , India , Infant, Newborn
5.
Clinical, biochemical & cytogenetic studies in mental retardation.
Ambani, L M; Patel, Z M; Dhareshwar, S S; Krishnamurthy, D S; Moghe, M S; Mulye, V R; Gokarn, V V; Peter, J J; Shah, L P; Merchant, S M.
Article in English | IMSEAR | ID: sea-16467

Subject(s)
Chromosome Aberrations/complications , Chromosome Disorders , Humans , Intellectual Disability/etiology , Metabolic Diseases/complications , Syndrome
6.
Evaluation of teratogenic potential of a combination of norethisterone and ethinyl estradiol in rats.
Joshi, N J; Ambani, L M; Munshi, S R.
Indian J Exp Biol ; 1983 Nov; 21(11): 591-6
Article in English | IMSEAR | ID: sea-61608

Subject(s)
Animals , Drug Synergism , Ethinyl Estradiol/toxicity , Female , Fetal Death , Fetus/drug effects , Humans , Male , Norethindrone/toxicity , Pregnancy , Rats , Teratogens
7.
Early amnion rupture spectrum--a case report.
Bhui, P S; Chawla, R K; Agarwal, R P; Ambani, L M; Raghavan, K R; Shah, S B; Madon, P; Dhareshwar, S S.
Indian J Pediatr ; 1983 Nov-Dec; 50(407): 675-7
Article in English | IMSEAR | ID: sea-78726

Subject(s)
Abnormalities, Multiple/etiology , Amnion , Amniotic Band Syndrome/etiology , Female , Fetal Membranes, Premature Rupture/complications , Humans , Infant, Newborn , Male , Pregnancy
8.
Short rib-polydactyly syndrome (Majewski type).
Raghavan, K R; Ambani, L M; Patel, D N; Khare, D A.
Indian Pediatr ; 1983 Nov; 20(11): 870-3
Article in English | IMSEAR | ID: sea-10706

Subject(s)
Abnormalities, Multiple , Fingers/abnormalities , Humans , Infant, Newborn , Limb Deformities, Congenital , Male , Ribs/abnormalities , Syndrome , Toes/abnormalities
9.
Ambiguous genitalia.
Patel, Z M; Ambani, L M; Dalal, S J; Gokarn, V V; Desai, M P; Rao, C S; Suchak, R H; Joshi, U M.
Indian Pediatr ; 1983 Apr; 20(4): 279-84
Article in English | IMSEAR | ID: sea-12725

Subject(s)
Child, Preschool , Female , Genitalia/abnormalities , Disorders of Sex Development/genetics , Humans , Infant , Infant, Newborn , Karyotyping , Male , Disorders of Sex Development/genetics
10.
GM2-gangliosidosis, Type 2 (Sandhoff disease).
Varadkar, A M; Mahale, S D; Suchak, R H; Patel, Z M; Dhareshwar, S S; Ambani, L M.
Indian Pediatr ; 1983 Apr; 20(4): 302-5
Article in English | IMSEAR | ID: sea-15653

Subject(s)
Female , Hexosaminidases/blood , Humans , Infant , Leukocytes/enzymology , Sandhoff Disease/enzymology , beta-N-Acetylhexosaminidases
11.
Monozygotic twinning and sirenomelia.
Raghavan, K R; Ambani, L M; Ratnaparki, S K; Dhareshwar, S S; Khare, D A; Badbade, J N.
Indian Pediatr ; 1983 Apr; 20(4): 308-9
Article in English | IMSEAR | ID: sea-9782

Subject(s)
Abnormalities, Multiple/genetics , Diseases in Twins , Ectromelia/genetics , Female , Humans , Infant, Newborn , Intestines/abnormalities , Pregnancy , Truncus Arteriosus, Persistent/genetics , Twins , Twins, Monozygotic
12.
Inborn errors of metabolism in acutely sick children.
Dhareshwar, S S; Ambani, L M; Suchak, R H; Danthi, V.
Article in English | IMSEAR | ID: sea-20787

Subject(s)
Acids/urine , Amino Acids/blood , Ammonia/blood , Carbohydrates/urine , Child , Child, Preschool , Chromatography, Thin Layer , Female , Humans , Infant , Infant, Newborn , Male , Metabolism, Inborn Errors/diagnosis , Orotic Acid/urine
13.
Ambiguous genitalia in a male infant with persistent Mullerian structure syndrome.
Patel, Z M; Rao, C S; Gokarn, V V; Dalal, S J; Ambani, L M.
Indian Pediatr ; 1982 Nov; 19(11): 943-5
Article in English | IMSEAR | ID: sea-10946

Subject(s)
Consanguinity , Genitalia, Male/abnormalities , Humans , Infant , Male , Mullerian Ducts/pathology , Disorders of Sex Development/pathology , Syndrome
14.
Cataracts in Down syndrome.
Dhareshwar, S S; Gokarn, V V; Ambani, L M.
Indian Pediatr ; 1982 Jul; 19(7): 642
Article in English | IMSEAR | ID: sea-12121

Subject(s)
Cataract/complications , Down Syndrome/complications , Humans , Infant , Male
15.
GM1 gangliosidosis, type II.
Patel, Z M; Iyer, S S; Ambani, L M; Suchak, R H; Aggarwal, R P.
Indian Pediatr ; 1982 Feb; 19(2): 185-7
Article in English | IMSEAR | ID: sea-14649

Subject(s)
Child, Preschool , Female , Humans , India , Sandhoff Disease/diagnosis
16.
Modified FPG technique for demonstrating sister chromatid exchange (SCE).
Kulkarni, P S; Ambani, L M; Vaidya, A B.
J Postgrad Med ; 1982 Jan; 28(1): 9-12
Article in English | IMSEAR | ID: sea-117863

Subject(s)
Adult , Azure Stains/diagnosis , Crossing Over, Genetic , Female , Fluorescence , Humans , Male , Metaphase , Phenothiazines/diagnosis , Sister Chromatid Exchange
17.
Normocalcemic pseudohypoparathyroidism (Type II).
Patel, Z M; Ambani, L M; Shah, P; Sheth, A R; Merchant, S M.
Indian Pediatr ; 1981 Nov; 18(11): 828-32
Article in English | IMSEAR | ID: sea-9287

Subject(s)
Adolescent , Calcium/blood , Cyclic AMP/urine , Humans , Male , Parathyroid Hormone/administration & dosage , Phosphorus/urine , Pseudohypoparathyroidism/genetics
18.
Prenatal diagnosis of Meckel syndrome.
Patel, Z M; Iyer, S S; Khatkatay, M I; Mandlekar, A; Baxi, A J; Pai, R R; Joshi, U M; Ambani, L M.
Indian Pediatr ; 1981 Oct; 18(10): 762-3
Article in English | IMSEAR | ID: sea-11066

Subject(s)
Abnormalities, Multiple/diagnosis , Adult , Encephalocele/diagnosis , Female , Humans , Pregnancy , Prenatal Diagnosis/methods , Risk
19.
Chondrodysplasia punctata.
Dhareshwar, S S; Mehta, K P; Patkar, S L; Patel, Z M; Ambani, L M.
Indian Pediatr ; 1981 Jun; 18(6): 410-2
Article in English | IMSEAR | ID: sea-12217

Subject(s)
Chondrodysplasia Punctata/diagnosis , Female , Humans , Infant
20.
Partial trisomy and monosomy for short arm of chromosome number 5 in two sibs and a balanced translocation carrier father.
Kulkarni, M V; Patel, Z M; Peter, J J; Ambani, L M.
Indian Pediatr ; 1981 Apr; 18(4): 263-6
Article in English | IMSEAR | ID: sea-8783

Subject(s)
Abnormalities, Multiple/genetics , Child, Preschool , Chromosomes, Human, 4-5 , Female , Humans , Infant, Newborn , Male , Translocation, Genetic , Trisomy
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